| NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000533016]|not specified [RCV001821646] |
Chr1:36471505 [GRCh38]
Chr1:36937106 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001332577]|not provided [RCV000523671] |
Chr1:36475659 [GRCh38]
Chr1:36941260 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1919C>A (p.Thr640Asn) |
single nucleotide variant |
Hereditary neutrophilia [RCV000017378] |
Chr1:36467597 [GRCh38]
Chr1:36933198 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.2165C>T (p.Thr722Ile) |
single nucleotide variant |
not provided [RCV001507950] |
Chr1:36466703 [GRCh38]
Chr1:36932304 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001882549]|not provided [RCV001507951] |
Chr1:36467857 [GRCh38]
Chr1:36933458 [GRCh37]
Chr1:1p34.3 |
likely pathogenic|uncertain significance |
| NM_000760.4(CSF3R):c.353G>A (p.Arg118His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000547476] |
Chr1:36475385 [GRCh38]
Chr1:36940986 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2187C>T (p.Leu729=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001495055] |
Chr1:36466681 [GRCh38]
Chr1:36932282 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000234854]|Severe congenital neutropenia [RCV000149408] |
Chr1:36472313 [GRCh38]
Chr1:36937914 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NP_000751.1:p.Trp547Ter |
variation |
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE [RCV000234851]|Neutropenia, severe congenital, 7, autosomal recessive [RCV000234851] |
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1245del (p.Thr416fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000234853] |
Chr1:36471473 [GRCh38]
Chr1:36937074 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4 |
copy number gain |
See cases [RCV000138892] |
Chr1:35934217..36821999 [GRCh38]
Chr1:36399818..37287600 [GRCh37]
Chr1:36172405..37060187 [NCBI36]
Chr1:1p34.3 |
likely pathogenic |
| GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 |
copy number gain |
See cases [RCV000138891] |
Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2 |
pathogenic |
| NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000960585]|not provided [RCV001572784]|not specified [RCV000194808] |
Chr1:36469807 [GRCh38]
Chr1:36935408 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) |
single nucleotide variant |
Acute myeloid leukemia [RCV000436788]|Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001070576]|Chronic myelogenous leukemia, BCR-ABL1 positive [RCV000426562]|Early T cell progenitor acute lymphoblastic leukemia [RCV000190419]|not provided [RCV001269671] |
Chr1:36467833 [GRCh38]
Chr1:36933434 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_000760.4(CSF3R):c.948_963del (p.His317fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000234852] |
Chr1:36472272..36472287 [GRCh38]
Chr1:36937873..36937888 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.998-2A>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000234855] |
Chr1:36472141 [GRCh38]
Chr1:36937742 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001517463]|not provided [RCV004713444]|not specified [RCV000248446] |
Chr1:36471458 [GRCh38]
Chr1:36937059 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001523641]|not provided [RCV004714569]|not specified [RCV000243703] |
Chr1:36471464 [GRCh38]
Chr1:36937065 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000540765]|not provided [RCV001699088]|not specified [RCV000253633] |
Chr1:36469716 [GRCh38]
Chr1:36935317 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.105C>A (p.Ile35=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000552317]|not provided [RCV004714568]|not specified [RCV000253936] |
Chr1:36475633 [GRCh38]
Chr1:36941234 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000539399]|not provided [RCV001640491]|not specified [RCV000249160] |
Chr1:36472100 [GRCh38]
Chr1:36937701 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000545875]|not specified [RCV000249800] |
Chr1:36468114 [GRCh38]
Chr1:36933715 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000524986]|not provided [RCV004714570]|not specified [RCV000249952] |
Chr1:36472277 [GRCh38]
Chr1:36937878 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.726C>T (p.Ala242=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000548558]|not provided [RCV004713445]|not specified [RCV000245189] |
Chr1:36472634 [GRCh38]
Chr1:36938235 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.2041-75G>A |
single nucleotide variant |
not provided [RCV001610754]|not specified [RCV000242925] |
Chr1:36466902 [GRCh38]
Chr1:36932503 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000533254]|not provided [RCV001598636]|not specified [RCV000245449] |
Chr1:36469204 [GRCh38]
Chr1:36934805 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000535918]|not provided [RCV001707577]|not specified [RCV000252931] |
Chr1:36472668 [GRCh38]
Chr1:36938269 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1984G>A (p.Val662Ile) |
single nucleotide variant |
not provided [RCV000585050] |
Chr1:36467286 [GRCh38]
Chr1:36932887 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001907569]|CSF3R-related disorder [RCV003892182] |
Chr1:36469717 [GRCh38]
Chr1:36935318 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2221C>T (p.Gln741Ter) |
single nucleotide variant |
not provided [RCV001269787] |
Chr1:36466647 [GRCh38]
Chr1:36932248 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1761C>T (p.Leu587=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001467114]|not provided [RCV000529762]|not specified [RCV001821648] |
Chr1:36467925 [GRCh38]
Chr1:36933526 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001043031] |
Chr1:36471540 [GRCh38]
Chr1:36937141 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000768196]|Hereditary neutrophilia [RCV003224438]|Inborn genetic diseases [RCV004609519] |
Chr1:36475635 [GRCh38]
Chr1:36941236 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) |
single nucleotide variant |
Chronic myelogenous leukemia, BCR-ABL1 positive [RCV000423498] |
Chr1:36467843 [GRCh38]
Chr1:36933444 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 |
copy number loss |
See cases [RCV000448022] |
Chr1:34830287..36945093 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001316713]|not specified [RCV000501201] |
Chr1:36472109 [GRCh38]
Chr1:36937710 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653392]|Hereditary neutrophilia [RCV002496944]|not provided [RCV003222007]|not specified [RCV000503532] |
Chr1:36466446 [GRCh38]
Chr1:36932047 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000535722]|not specified [RCV000501446] |
Chr1:36466372 [GRCh38]
Chr1:36931973 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001086265]|CSF3R-related disorder [RCV003915354]|not provided [RCV000766730]|not specified [RCV000498079] |
Chr1:36467938 [GRCh38]
Chr1:36933539 [GRCh37]
Chr1:1p34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001080473]|CSF3R-related disorder [RCV003925435]|not provided [RCV000766731]|not specified [RCV000498753] |
Chr1:36467597 [GRCh38]
Chr1:36933198 [GRCh37]
Chr1:1p34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000547268]|not provided [RCV004715240]|not specified [RCV000503971] |
Chr1:36467892 [GRCh38]
Chr1:36933493 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1262C>A (p.Pro421Gln) |
single nucleotide variant |
not specified [RCV000504263] |
Chr1:36471456 [GRCh38]
Chr1:36937057 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001082317]|CSF3R-related disorder [RCV003925455]|not provided [RCV000658506]|not specified [RCV000504453] |
Chr1:36473802 [GRCh38]
Chr1:36939403 [GRCh37]
Chr1:1p34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000760.4(CSF3R):c.272A>G (p.His91Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000798833]|Inborn genetic diseases [RCV002524172]|not specified [RCV000499844] |
Chr1:36475466 [GRCh38]
Chr1:36941067 [GRCh37]
Chr1:1p34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000760.4(CSF3R):c.1458G>A (p.Thr486=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000553390]|not specified [RCV000502381] |
Chr1:36469668 [GRCh38]
Chr1:36935269 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.1864+12C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002056842]|not specified [RCV000502564] |
Chr1:36467810 [GRCh38]
Chr1:36933411 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.2192G>A (p.Gly731Glu) |
single nucleotide variant |
not specified [RCV000502792] |
Chr1:36466676 [GRCh38]
Chr1:36932277 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.722C>T (p.Ala241Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001857086]|CSF3R-related disorder [RCV004755937]|not specified [RCV000502926] |
Chr1:36472638 [GRCh38]
Chr1:36938239 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.108C>T (p.Val36=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000958047]|CSF3R-related disorder [RCV003932824]|not provided [RCV001172212]|not specified [RCV000500707] |
Chr1:36475630 [GRCh38]
Chr1:36941231 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_000760.4(CSF3R):c.1689C>A (p.Thr563=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000558122]|not provided [RCV004711190]|not specified [RCV001821647] |
Chr1:36468109 [GRCh38]
Chr1:36933710 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.2325C>T (p.Pro775=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001454194] |
Chr1:36466543 [GRCh38]
Chr1:36932144 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1216dup (p.Val406fs) |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653387] |
Chr1:36471501..36471502 [GRCh38]
Chr1:36937102..36937103 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.799del (p.Glu267fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653388] |
Chr1:36472561 [GRCh38]
Chr1:36938162 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653389]|CSF3R-related disorder [RCV003953205]|not provided [RCV002263922]|not specified [RCV001816644] |
Chr1:36467830 [GRCh38]
Chr1:36933431 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653390] |
Chr1:36468186 [GRCh38]
Chr1:36933787 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653391]|Inborn genetic diseases [RCV003303077]|not specified [RCV003151130] |
Chr1:36472110 [GRCh38]
Chr1:36937711 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1725C>T (p.Ser575=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653393] |
Chr1:36467961 [GRCh38]
Chr1:36933562 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1286-3C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653394]|not provided [RCV004691272]|not specified [RCV001816645] |
Chr1:36469843 [GRCh38]
Chr1:36935444 [GRCh37]
Chr1:1p34.3 |
benign|uncertain significance |
| NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000653395]|CSF3R-related disorder [RCV003892492]|not specified [RCV001816646] |
Chr1:36466671 [GRCh38]
Chr1:36932272 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1117G>A (p.Val373Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003242808] |
Chr1:36471601 [GRCh38]
Chr1:36937202 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NC_000001.10:g.(?_36931677)_(36937267_?)dup |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000707768] |
Chr1:36466076..36471666 [GRCh38]
Chr1:36931677..36937267 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.686C>A (p.Pro229His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000691019]|not provided [RCV004691279] |
Chr1:36472674 [GRCh38]
Chr1:36938275 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000691914]|CSF3R-Related Disorders [RCV004689857]|CSF3R-related disorder [RCV003945713]|Hereditary neutrophilia [RCV002493178]|Inherited Immunodeficiency Diseases [RCV001027561]|not provided [RCV001570714] |
Chr1:36468158 [GRCh38]
Chr1:36468158..36468159 [GRCh38]
Chr1:36933759 [GRCh37]
Chr1:36933759..36933760 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NM_000760.4(CSF3R):c.160C>T (p.His54Tyr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000685186]|Inborn genetic diseases [RCV002531435]|not provided [RCV004691274] |
Chr1:36475578 [GRCh38]
Chr1:36941179 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000687030] |
Chr1:36475637 [GRCh38]
Chr1:36941238 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His) |
inversion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000705325] |
Chr1:36471464..36471465 [GRCh38]
Chr1:36937065..36937066 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.903G>A (p.Thr301=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000707367]|CSF3R-related disorder [RCV003907961] |
Chr1:36472332 [GRCh38]
Chr1:36937933 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000685892]|Hereditary neutrophilia [RCV002485593]|not provided [RCV002261173]|not specified [RCV001816697] |
Chr1:36475383 [GRCh38]
Chr1:36940984 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000706378] |
Chr1:36466626 [GRCh38]
Chr1:36932227 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000806250]|Inborn genetic diseases [RCV002537215] |
Chr1:36472271 [GRCh38]
Chr1:36937872 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 |
copy number gain |
not provided [RCV000748949] |
Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001225134]|Severe congenital neutropenia [RCV001003788] |
Chr1:36475398 [GRCh38]
Chr1:36940999 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001066493] |
Chr1:36468190 [GRCh38]
Chr1:36933791 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.704T>C (p.Met235Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000970043]|CSF3R-related disorder [RCV003960820]|Inborn genetic diseases [RCV003279171]|not provided [RCV004711476] |
Chr1:36472656 [GRCh38]
Chr1:36938257 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.2484T>C (p.His828=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000921875] |
Chr1:36466384 [GRCh38]
Chr1:36931985 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1242C>T (p.Ala414=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001480999]|CSF3R-related disorder [RCV003913193] |
Chr1:36471476 [GRCh38]
Chr1:36937077 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.846G>T (p.Val282=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000899470] |
Chr1:36472389 [GRCh38]
Chr1:36937990 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2334G>A (p.Ala778=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000904714]|not specified [RCV001818775] |
Chr1:36466534 [GRCh38]
Chr1:36932135 [GRCh37]
Chr1:1p34.3 |
benign|uncertain significance |
| NM_000760.4(CSF3R):c.234G>A (p.Leu78=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000915918]|not provided [RCV004711406] |
Chr1:36475504 [GRCh38]
Chr1:36941105 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000966746]|CSF3R-related disorder [RCV003972857] |
Chr1:36466461 [GRCh38]
Chr1:36932062 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2157C>T (p.Gly719=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000928399] |
Chr1:36466711 [GRCh38]
Chr1:36932312 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.438A>T (p.Pro146=) |
single nucleotide variant |
not provided [RCV000899057] |
Chr1:36473811 [GRCh38]
Chr1:36939412 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001055306] |
Chr1:36466809 [GRCh38]
Chr1:36932410 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001043604] |
Chr1:36466589 [GRCh38]
Chr1:36932190 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001046784]|Inborn genetic diseases [RCV004031453]|not specified [RCV003151272] |
Chr1:36466796 [GRCh38]
Chr1:36932397 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001070336]|not specified [RCV001819795] |
Chr1:36468174 [GRCh38]
Chr1:36933775 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001037744] |
Chr1:36475500 [GRCh38]
Chr1:36941101 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1324C>G (p.Pro442Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001047232] |
Chr1:36469802 [GRCh38]
Chr1:36935403 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001070521] |
Chr1:36471433 [GRCh38]
Chr1:36937034 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1072-10T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000768195]|Hereditary neutrophilia [RCV003224437] |
Chr1:36471656 [GRCh38]
Chr1:36937257 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1286-4C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001442205] |
Chr1:36469844 [GRCh38]
Chr1:36935445 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2427C>T (p.Asp809=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000893483] |
Chr1:36466441 [GRCh38]
Chr1:36932042 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.99C>A (p.Ala33=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001422933] |
Chr1:36475639 [GRCh38]
Chr1:36941240 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1212G>A (p.Gln404=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001439522] |
Chr1:36471506 [GRCh38]
Chr1:36937107 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2211C>T (p.Ser737=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000909784]|not provided [RCV002264083] |
Chr1:36466657 [GRCh38]
Chr1:36932258 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.429G>T (p.Gln143His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000796660] |
Chr1:36473820 [GRCh38]
Chr1:36939421 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.160C>G (p.His54Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000814150] |
Chr1:36475578 [GRCh38]
Chr1:36941179 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000817559] |
Chr1:36472662 [GRCh38]
Chr1:36938263 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1864+7G>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000823773] |
Chr1:36467815 [GRCh38]
Chr1:36933416 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000810869] |
Chr1:36472240 [GRCh38]
Chr1:36937841 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000806784] |
Chr1:36467939 [GRCh38]
Chr1:36933540 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2483A>G (p.His828Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000815240] |
Chr1:36466385 [GRCh38]
Chr1:36931986 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000804104] |
Chr1:36472272..36472300 [GRCh38]
Chr1:36937873..36937901 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000818919] |
Chr1:36473584 [GRCh38]
Chr1:36939185 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000811553] |
Chr1:36475517..36475535 [GRCh38]
Chr1:36941118..36941136 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000794696] |
Chr1:36471603 [GRCh38]
Chr1:36937204 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000809956] |
Chr1:36469768 [GRCh38]
Chr1:36935369 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1510G>A (p.Val504Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000818224] |
Chr1:36469222 [GRCh38]
Chr1:36934823 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000805343] |
Chr1:36472324 [GRCh38]
Chr1:36937925 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000803545] |
Chr1:36469727 [GRCh38]
Chr1:36935328 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000823381]|not specified [RCV001816909] |
Chr1:36466738 [GRCh38]
Chr1:36932339 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2367C>T (p.Asn789=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001503730]|not provided [RCV000788891] |
Chr1:36466501 [GRCh38]
Chr1:36932102 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001202562] |
Chr1:36471618 [GRCh38]
Chr1:36937219 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.971G>A (p.Ser324Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001216956] |
Chr1:36472264 [GRCh38]
Chr1:36937865 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.739G>C (p.Gly247Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001231373] |
Chr1:36472621 [GRCh38]
Chr1:36938222 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001224664] |
Chr1:36475632 [GRCh38]
Chr1:36941233 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001241437]|CSF3R-related disorder [RCV003393908] |
Chr1:36472262 [GRCh38]
Chr1:36937863 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1307A>T (p.His436Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001221747] |
Chr1:36469819 [GRCh38]
Chr1:36935420 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001230836] |
Chr1:36467645 [GRCh38]
Chr1:36933246 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.673+12A>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003104808] |
Chr1:36473423 [GRCh38]
Chr1:36939024 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.361+258G>C |
single nucleotide variant |
not provided [RCV001663165] |
Chr1:36475119 [GRCh38]
Chr1:36940720 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.361+167G>A |
single nucleotide variant |
not provided [RCV001656361] |
Chr1:36475210 [GRCh38]
Chr1:36940811 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.673+282G>C |
single nucleotide variant |
not provided [RCV001650718] |
Chr1:36473153 [GRCh38]
Chr1:36938754 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1865-65G>A |
single nucleotide variant |
not provided [RCV001695120] |
Chr1:36467716 [GRCh38]
Chr1:36933317 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1723+8T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000887887]|CSF3R-related disorder [RCV003968076]|not specified [RCV003151183] |
Chr1:36468067 [GRCh38]
Chr1:36933668 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.927C>T (p.Cys309=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001455186] |
Chr1:36472308 [GRCh38]
Chr1:36937909 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1812C>T (p.Ser604=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000928759] |
Chr1:36467874 [GRCh38]
Chr1:36933475 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.538A>C (p.Lys180Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001242371] |
Chr1:36473570 [GRCh38]
Chr1:36939171 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1646C>A (p.Pro549His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001245007] |
Chr1:36468152 [GRCh38]
Chr1:36933753 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001240266] |
Chr1:36466611 [GRCh38]
Chr1:36932212 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001231045] |
Chr1:36473618 [GRCh38]
Chr1:36939219 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001047532] |
Chr1:36467900..36467901 [GRCh38]
Chr1:36933501..36933502 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001224870] |
Chr1:36469802 [GRCh38]
Chr1:36935403 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.816G>A (p.Pro272=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002066127] |
Chr1:36472544 [GRCh38]
Chr1:36938145 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1263G>A (p.Pro421=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000912269]|CSF3R-related disorder [RCV003895549] |
Chr1:36471455 [GRCh38]
Chr1:36937056 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1185C>T (p.Cys395=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591812] |
Chr1:36471533 [GRCh38]
Chr1:36937134 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2118G>A (p.Pro706=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV000935218]|not provided [RCV004711421] |
Chr1:36466750 [GRCh38]
Chr1:36932351 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002771015] |
Chr1:36472271 [GRCh38]
Chr1:36937872 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002472230] |
Chr1:36466373 [GRCh38]
Chr1:36931974 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.801G>C (p.Glu267Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001043959]|Inborn genetic diseases [RCV002552542] |
Chr1:36472559 [GRCh38]
Chr1:36938160 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1958+63A>G |
single nucleotide variant |
not provided [RCV001621508] |
Chr1:36467495 [GRCh38]
Chr1:36933096 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1475-118G>A |
single nucleotide variant |
not provided [RCV001659499] |
Chr1:36469375 [GRCh38]
Chr1:36934976 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.-20-191del |
deletion |
not provided [RCV001638198] |
Chr1:36479707 [GRCh38]
Chr1:36945308 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001035848] |
Chr1:36473603 [GRCh38]
Chr1:36939204 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1576+1G>A |
single nucleotide variant |
Severe congenital neutropenia [RCV001003787] |
Chr1:36469155 [GRCh38]
Chr1:36934756 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001066165] |
Chr1:36469719 [GRCh38]
Chr1:36935320 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001044992] |
Chr1:36466631 [GRCh38]
Chr1:36932232 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.163C>G (p.Leu55Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001229002] |
Chr1:36475575 [GRCh38]
Chr1:36941176 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1072-167C>A |
single nucleotide variant |
not provided [RCV001670325] |
Chr1:36471813 [GRCh38]
Chr1:36937414 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1285+95G>A |
single nucleotide variant |
not provided [RCV001615540] |
Chr1:36471338 [GRCh38]
Chr1:36936939 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1576+90A>G |
single nucleotide variant |
not provided [RCV001650457] |
Chr1:36469066 [GRCh38]
Chr1:36934667 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1286-278G>A |
single nucleotide variant |
not provided [RCV001680609] |
Chr1:36470118 [GRCh38]
Chr1:36935719 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001234433] |
Chr1:36472339 [GRCh38]
Chr1:36937940 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001056187] |
Chr1:36471615 [GRCh38]
Chr1:36937216 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001236776] |
Chr1:36466487 [GRCh38]
Chr1:36932088 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1216G>A (p.Val406Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001036398] |
Chr1:36471502 [GRCh38]
Chr1:36937103 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001057303] |
Chr1:36469697 [GRCh38]
Chr1:36935298 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.623C>T (p.Ala208Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001234119] |
Chr1:36473485 [GRCh38]
Chr1:36939086 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.997G>A (p.Ala333Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001040586] |
Chr1:36472238 [GRCh38]
Chr1:36937839 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001215331] |
Chr1:36469775 [GRCh38]
Chr1:36935376 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1404del (p.Ser469fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001247097] |
Chr1:36469722 [GRCh38]
Chr1:36935323 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.214G>A (p.Gly72Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001054549] |
Chr1:36475524 [GRCh38]
Chr1:36941125 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001205151] |
Chr1:36466637 [GRCh38]
Chr1:36932238 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.693G>T (p.Met231Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001232163] |
Chr1:36472667 [GRCh38]
Chr1:36938268 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001907642] |
Chr1:36467633 [GRCh38]
Chr1:36933234 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.664A>G (p.Met222Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001297210] |
Chr1:36473444 [GRCh38]
Chr1:36939045 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2041-30C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001335443]|CSF3R-related disorder [RCV003918861]|Hereditary neutrophilia [RCV003224555]|not provided [RCV003883610] |
Chr1:36466857 [GRCh38]
Chr1:36932458 [GRCh37]
Chr1:1p34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000760.4(CSF3R):c.1018A>G (p.Thr340Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001317320] |
Chr1:36472119 [GRCh38]
Chr1:36937720 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001307282] |
Chr1:36475413 [GRCh38]
Chr1:36941014 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.782A>G (p.His261Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001316910] |
Chr1:36472578 [GRCh38]
Chr1:36938179 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001348181]|Inborn genetic diseases [RCV004036546] |
Chr1:36466701 [GRCh38]
Chr1:36932302 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001337272] |
Chr1:36472324 [GRCh38]
Chr1:36937925 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756351] |
Chr1:36472524 [GRCh38]
Chr1:36938125 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001318375] |
Chr1:36466391 [GRCh38]
Chr1:36931992 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.*161G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001335441]|CSF3R-related disorder [RCV004756213] |
Chr1:36466196 [GRCh38]
Chr1:36931797 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.843+2T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001335445]|Hereditary neutrophilia [RCV002499661] |
Chr1:36472515 [GRCh38]
Chr1:36938116 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NM_000760.4(CSF3R):c.1724-6T>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001297303] |
Chr1:36467968 [GRCh38]
Chr1:36933569 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001344585]|not provided [RCV001269738] |
Chr1:36466653 [GRCh38]
Chr1:36932254 [GRCh37]
Chr1:1p34.3 |
pathogenic|uncertain significance |
| NM_000760.4(CSF3R):c.1348G>A (p.Glu450Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001369178] |
Chr1:36469778 [GRCh38]
Chr1:36935379 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.78C>T (p.Cys26=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001392214] |
Chr1:36475660 [GRCh38]
Chr1:36941261 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001341981] |
Chr1:36471475 [GRCh38]
Chr1:36937076 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1044C>A (p.Asp348Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001320063] |
Chr1:36472093 [GRCh38]
Chr1:36937694 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001345846]|Inborn genetic diseases [RCV003284237] |
Chr1:36468185 [GRCh38]
Chr1:36933786 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001365315]|Inborn genetic diseases [RCV004036940]|not specified [RCV001820065] |
Chr1:36469801 [GRCh38]
Chr1:36935402 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2260C>T (p.Gln754Ter) |
single nucleotide variant |
not provided [RCV001269789] |
Chr1:36466608 [GRCh38]
Chr1:36932209 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001345010]|not provided [RCV003136008] |
Chr1:36466674 [GRCh38]
Chr1:36932275 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001347015] |
Chr1:36475426 [GRCh38]
Chr1:36941027 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001347284] |
Chr1:36472298 [GRCh38]
Chr1:36937899 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001314942] |
Chr1:36469210 [GRCh38]
Chr1:36934811 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001300569] |
Chr1:36468165 [GRCh38]
Chr1:36933766 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001351346]|not specified [RCV001820048] |
Chr1:36469669 [GRCh38]
Chr1:36935270 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1071+1_1071+5dup |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003079664] |
Chr1:36472060..36472061 [GRCh38]
Chr1:36937661..36937662 [GRCh37]
Chr1:1p34.3 |
pathogenic|uncertain significance |
| NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001326995]|not specified [RCV001820017] |
Chr1:36466440 [GRCh38]
Chr1:36932041 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1266G>A (p.Val422=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001299667] |
Chr1:36471452 [GRCh38]
Chr1:36937053 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001340355]|Inborn genetic diseases [RCV004035933] |
Chr1:36466751 [GRCh38]
Chr1:36932352 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1474+3G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001366335] |
Chr1:36469649 [GRCh38]
Chr1:36935250 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.114G>A (p.Leu38=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001337651] |
Chr1:36475624 [GRCh38]
Chr1:36941225 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.872del (p.Gln291fs) |
deletion |
Neutropenia, severe congenital, 7, autosomal recessive [RCV001335446] |
Chr1:36472363 [GRCh38]
Chr1:36937964 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001314783] |
Chr1:36479436 [GRCh38]
Chr1:36945037 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.923G>A (p.Arg308His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001318371] |
Chr1:36472312 [GRCh38]
Chr1:36937913 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.180G>A (p.Gln60=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001412500] |
Chr1:36475558 [GRCh38]
Chr1:36941159 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2134C>T (p.His712Tyr) |
single nucleotide variant |
not provided [RCV001269652] |
Chr1:36466734 [GRCh38]
Chr1:36932335 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.2127G>A (p.Trp709Ter) |
single nucleotide variant |
not provided [RCV001269790] |
Chr1:36466741 [GRCh38]
Chr1:36932342 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003754906]|not provided [RCV001269788] |
Chr1:36466623 [GRCh38]
Chr1:36932224 [GRCh37]
Chr1:1p34.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001352541]|Inborn genetic diseases [RCV003355423] |
Chr1:36475416 [GRCh38]
Chr1:36941017 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.48C>T (p.Ile16=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001494557] |
Chr1:36479449 [GRCh38]
Chr1:36945050 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.843+3G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001369060] |
Chr1:36472514 [GRCh38]
Chr1:36938115 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1537_1552del (p.Gly513fs) |
deletion |
not provided [RCV001507953] |
Chr1:36469180..36469195 [GRCh38]
Chr1:36934781..36934796 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1456A>G (p.Thr486Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003754907]|not provided [RCV001507954] |
Chr1:36469670 [GRCh38]
Chr1:36935271 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.532G>A (p.Val178Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001313174] |
Chr1:36473576 [GRCh38]
Chr1:36939177 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001382169] |
Chr1:36479465 [GRCh38]
Chr1:36945066 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.855C>T (p.Leu285=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001435402] |
Chr1:36472380 [GRCh38]
Chr1:36937981 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.171G>A (p.Pro57=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001466781]|CSF3R-related disorder [RCV003900612] |
Chr1:36475567 [GRCh38]
Chr1:36941168 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.64+7del |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001502617] |
Chr1:36479426 [GRCh38]
Chr1:36945027 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.195G>A (p.Leu65=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001457399] |
Chr1:36475543 [GRCh38]
Chr1:36941144 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2037G>A (p.Glu679=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001482574] |
Chr1:36467233 [GRCh38]
Chr1:36932834 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1577-12C>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001523152]|not specified [RCV001821844] |
Chr1:36468233 [GRCh38]
Chr1:36933834 [GRCh37]
Chr1:1p34.3 |
benign|likely benign |
| NM_000760.4(CSF3R):c.625C>T (p.Leu209=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001479370] |
Chr1:36473483 [GRCh38]
Chr1:36939084 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.618G>A (p.Glu206=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001485705] |
Chr1:36473490 [GRCh38]
Chr1:36939091 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2451C>T (p.Leu817=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001393569] |
Chr1:36466417 [GRCh38]
Chr1:36932018 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.844-8C>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001456736] |
Chr1:36472399 [GRCh38]
Chr1:36938000 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.723G>A (p.Ala241=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001446302] |
Chr1:36472637 [GRCh38]
Chr1:36938238 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1224T>A (p.Leu408=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001448988] |
Chr1:36471494 [GRCh38]
Chr1:36937095 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1926C>G (p.Leu642=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001417083] |
Chr1:36467590 [GRCh38]
Chr1:36933191 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.90T>C (p.Ser30=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001424407] |
Chr1:36475648 [GRCh38]
Chr1:36941249 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001402908] |
Chr1:36469749 [GRCh38]
Chr1:36935350 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2106T>C (p.Asp702=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001502068] |
Chr1:36466762 [GRCh38]
Chr1:36932363 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1680C>G (p.Thr560=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001472505] |
Chr1:36468118 [GRCh38]
Chr1:36933719 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1665G>T (p.Gly555=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002071877]|not provided [RCV001507952]|not specified [RCV001821801] |
Chr1:36468133 [GRCh38]
Chr1:36933734 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.1474+125C>T |
single nucleotide variant |
not provided [RCV001617356] |
Chr1:36469527 [GRCh38]
Chr1:36935128 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.65-266dup |
duplication |
not provided [RCV001617095] |
Chr1:36475938..36475939 [GRCh38]
Chr1:36941539..36941540 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1071+171C>T |
single nucleotide variant |
not provided [RCV001673895] |
Chr1:36471895 [GRCh38]
Chr1:36937496 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.93C>T (p.Val31=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001457768]|CSF3R-related disorder [RCV003965909]|not specified [RCV001820148] |
Chr1:36475645 [GRCh38]
Chr1:36941246 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NC_000001.11:g.36465772C>T |
single nucleotide variant |
not provided [RCV001611422] |
Chr1:36465772 [GRCh38]
Chr1:36931373 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1773G>A (p.Glu591=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001501163] |
Chr1:36467913 [GRCh38]
Chr1:36933514 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1509C>T (p.Ile503=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001470218] |
Chr1:36469223 [GRCh38]
Chr1:36934824 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2289G>A (p.Gly763=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001500374]|CSF3R-related disorder [RCV003921049] |
Chr1:36466579 [GRCh38]
Chr1:36932180 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.765A>T (p.Pro255=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001496645] |
Chr1:36472595 [GRCh38]
Chr1:36938196 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2121G>A (p.Val707=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001417722] |
Chr1:36466747 [GRCh38]
Chr1:36932348 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1872G>A (p.Ser624=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001425641] |
Chr1:36467644 [GRCh38]
Chr1:36933245 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.324C>T (p.Ser108=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001467875] |
Chr1:36475414 [GRCh38]
Chr1:36941015 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.885C>T (p.Cys295=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001404639]|not provided [RCV003405644] |
Chr1:36472350 [GRCh38]
Chr1:36937951 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2241C>T (p.Ser747=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001400861]|not specified [RCV001820099] |
Chr1:36466627 [GRCh38]
Chr1:36932228 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1072-145A>G |
single nucleotide variant |
not provided [RCV001538637] |
Chr1:36471791 [GRCh38]
Chr1:36937392 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001386326] |
Chr1:36469738 [GRCh38]
Chr1:36935339 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1071+53C>T |
single nucleotide variant |
not provided [RCV001539103] |
Chr1:36472013 [GRCh38]
Chr1:36937614 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.2320C>T (p.Gln774Ter) |
single nucleotide variant |
not provided [RCV001767107] |
Chr1:36466548 [GRCh38]
Chr1:36932149 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.189G>A (p.Trp63Ter) |
single nucleotide variant |
not provided [RCV003147658] |
Chr1:36475549 [GRCh38]
Chr1:36941150 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.461C>T (p.Thr154Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003754916]|not provided [RCV001752374] |
Chr1:36473788 [GRCh38]
Chr1:36939389 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.40C>G (p.Leu14Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591896]|not specified [RCV001817504] |
Chr1:36479457 [GRCh38]
Chr1:36945058 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.624G>T (p.Ala208=) |
single nucleotide variant |
not specified [RCV001819577] |
Chr1:36473484 [GRCh38]
Chr1:36939085 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002542588]|not specified [RCV001819631] |
Chr1:36472534 [GRCh38]
Chr1:36938135 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.392G>A (p.Cys131Tyr) |
single nucleotide variant |
not specified [RCV001820419] |
Chr1:36473857 [GRCh38]
Chr1:36939458 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001869726]|not specified [RCV001820451] |
Chr1:36467891 [GRCh38]
Chr1:36933492 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.820C>T (p.Arg274Cys) |
single nucleotide variant |
not specified [RCV001822491] |
Chr1:36472540 [GRCh38]
Chr1:36938141 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1101G>C (p.Arg367=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003754923]|not specified [RCV001817615] |
Chr1:36471617 [GRCh38]
Chr1:36937218 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.1282A>G (p.Arg428Gly) |
single nucleotide variant |
not specified [RCV001819227] |
Chr1:36471436 [GRCh38]
Chr1:36937037 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003772300]|not specified [RCV001819394] |
Chr1:36475412 [GRCh38]
Chr1:36941013 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591897]|not specified [RCV001819486] |
Chr1:36473617 [GRCh38]
Chr1:36939218 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1666A>G (p.Lys556Glu) |
single nucleotide variant |
not specified [RCV001820258] |
Chr1:36468132 [GRCh38]
Chr1:36933733 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1867G>T (p.Gly623Trp) |
single nucleotide variant |
not specified [RCV001820393] |
Chr1:36467649 [GRCh38]
Chr1:36933250 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.998-3C>T |
single nucleotide variant |
not specified [RCV001822476] |
Chr1:36472142 [GRCh38]
Chr1:36937743 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1014G>A (p.Leu338=) |
single nucleotide variant |
not specified [RCV001822682] |
Chr1:36472123 [GRCh38]
Chr1:36937724 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001929903] |
Chr1:36471640 [GRCh38]
Chr1:36937241 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001930106] |
Chr1:36468134 [GRCh38]
Chr1:36933735 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1408G>A (p.Ala470Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001929445] |
Chr1:36469718 [GRCh38]
Chr1:36935319 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.344T>G (p.Val115Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001983726] |
Chr1:36475394 [GRCh38]
Chr1:36940995 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001874394]|Inborn genetic diseases [RCV003348552] |
Chr1:36466736 [GRCh38]
Chr1:36932337 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001915097] |
Chr1:36466451 [GRCh38]
Chr1:36932052 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1238C>T (p.Ser413Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001895462] |
Chr1:36471480 [GRCh38]
Chr1:36937081 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.568C>T (p.Arg190Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001970925] |
Chr1:36473540 [GRCh38]
Chr1:36939141 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001988766] |
Chr1:36469201 [GRCh38]
Chr1:36934802 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1828A>C (p.Asn610His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001948676]|not provided [RCV003481198] |
Chr1:36467858 [GRCh38]
Chr1:36933459 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) |
indel |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001872823] |
Chr1:36473458..36473466 [GRCh38]
Chr1:36939059..36939067 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| GRCh37/hg19 1p34.3(chr1:36041366-39112237) |
copy number loss |
not specified [RCV002053236] |
Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2011G>A (p.Gly671Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002023132] |
Chr1:36467259 [GRCh38]
Chr1:36932860 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1864+6G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002043220] |
Chr1:36467816 [GRCh38]
Chr1:36933417 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.998-1G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002040630] |
Chr1:36472140 [GRCh38]
Chr1:36937741 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1681C>G (p.His561Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002002116] |
Chr1:36468117 [GRCh38]
Chr1:36933718 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1253G>A (p.Arg418His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002022237] |
Chr1:36471465 [GRCh38]
Chr1:36937066 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002004571] |
Chr1:36468087 [GRCh38]
Chr1:36933688 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001893584] |
Chr1:36475568 [GRCh38]
Chr1:36941169 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.693G>A (p.Met231Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002041501] |
Chr1:36472667 [GRCh38]
Chr1:36938268 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.648A>C (p.Gln216His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002006175]|not provided [RCV003128840] |
Chr1:36473460 [GRCh38]
Chr1:36939061 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1037A>C (p.Gln346Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001892698] |
Chr1:36472100 [GRCh38]
Chr1:36937701 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001909875] |
Chr1:36466704 [GRCh38]
Chr1:36932305 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1412_1413delinsAA (p.Ser471Lys) |
indel |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001913345] |
Chr1:36469713..36469714 [GRCh38]
Chr1:36935314..36935315 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1096G>A (p.Gly366Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001910243] |
Chr1:36471622 [GRCh38]
Chr1:36937223 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1072-1G>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002002363] |
Chr1:36471647 [GRCh38]
Chr1:36937248 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) |
copy number gain |
not specified [RCV002052781] |
Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33 |
pathogenic |
| NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002020591] |
Chr1:36469754 [GRCh38]
Chr1:36935355 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001883613]|Inborn genetic diseases [RCV002552788] |
Chr1:36466575 [GRCh38]
Chr1:36932176 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.991G>A (p.Glu331Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002010456] |
Chr1:36472244 [GRCh38]
Chr1:36937845 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys) |
indel |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001963775] |
Chr1:36466373..36466374 [GRCh38]
Chr1:36931974..36931975 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.381C>A (p.His127Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002037180] |
Chr1:36473868 [GRCh38]
Chr1:36939469 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2434G>A (p.Val812Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001888062] |
Chr1:36466434 [GRCh38]
Chr1:36932035 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002000929]|Inborn genetic diseases [RCV002579660] |
Chr1:36472555 [GRCh38]
Chr1:36938156 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.229C>T (p.Arg77Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001907418] |
Chr1:36475509 [GRCh38]
Chr1:36941110 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.994C>T (p.Arg332Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001886574]|Inborn genetic diseases [RCV002552815] |
Chr1:36472241 [GRCh38]
Chr1:36937842 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1156C>T (p.Pro386Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001877014] |
Chr1:36471562 [GRCh38]
Chr1:36937163 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2039_2040del (p.Glu680fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001996463] |
Chr1:36467230..36467231 [GRCh38]
Chr1:36932831..36932832 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.787A>C (p.Asn263His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002038761] |
Chr1:36472573 [GRCh38]
Chr1:36938174 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001957540] |
Chr1:36467929 [GRCh38]
Chr1:36933530 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.815C>A (p.Pro272Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001994953]|Inborn genetic diseases [RCV004612040] |
Chr1:36472545 [GRCh38]
Chr1:36938146 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001916732] |
Chr1:36466617 [GRCh38]
Chr1:36932218 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.203A>G (p.Glu68Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001931340] |
Chr1:36475535 [GRCh38]
Chr1:36941136 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1484G>C (p.Arg495Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001937705] |
Chr1:36469248 [GRCh38]
Chr1:36934849 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.437C>T (p.Pro146Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001991346] |
Chr1:36473812 [GRCh38]
Chr1:36939413 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.445G>A (p.Glu149Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002047256]|Inborn genetic diseases [RCV004038918] |
Chr1:36473804 [GRCh38]
Chr1:36939405 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.274C>G (p.Leu92Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002014677]|Inborn genetic diseases [RCV002563580] |
Chr1:36475464 [GRCh38]
Chr1:36941065 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1427C>G (p.Thr476Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001881834] |
Chr1:36469699 [GRCh38]
Chr1:36935300 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.757T>G (p.Trp253Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001901055] |
Chr1:36472603 [GRCh38]
Chr1:36938204 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1726G>A (p.Ala576Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001916109] |
Chr1:36467960 [GRCh38]
Chr1:36933561 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.146A>G (p.Lys49Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001995507] |
Chr1:36475592 [GRCh38]
Chr1:36941193 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001933386] |
Chr1:36475660 [GRCh38]
Chr1:36941261 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001938164] |
Chr1:36466373 [GRCh38]
Chr1:36931974 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.218dup (p.Arg74fs) |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001940010]|CSF3R-related disorder [RCV003892946] |
Chr1:36475519..36475520 [GRCh38]
Chr1:36941120..36941121 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NM_000760.4(CSF3R):c.800A>T (p.Glu267Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002027834] |
Chr1:36472560 [GRCh38]
Chr1:36938161 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.214G>T (p.Gly72Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001925478] |
Chr1:36475524 [GRCh38]
Chr1:36941125 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001907304]|not provided [RCV003481150] |
Chr1:36466463 [GRCh38]
Chr1:36932064 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.560G>C (p.Cys187Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001906809]|Inborn genetic diseases [RCV004042688] |
Chr1:36473548 [GRCh38]
Chr1:36939149 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.1399C>G (p.Pro467Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002030436] |
Chr1:36469727 [GRCh38]
Chr1:36935328 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001883965]|not specified [RCV003151360] |
Chr1:36466799 [GRCh38]
Chr1:36932400 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.230G>A (p.Arg77His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001981949]|Inborn genetic diseases [RCV002561414] |
Chr1:36475508 [GRCh38]
Chr1:36941109 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.142A>G (p.Ile48Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001960104]|Inborn genetic diseases [RCV004042094] |
Chr1:36475596 [GRCh38]
Chr1:36941197 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001981827] |
Chr1:36469207 [GRCh38]
Chr1:36934808 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1378G>A (p.Val460Met) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002009489] |
Chr1:36469748 [GRCh38]
Chr1:36935349 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002012274]|Inborn genetic diseases [RCV004043894]|not provided [RCV003481212] |
Chr1:36475487 [GRCh38]
Chr1:36941088 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001918565]|Inborn genetic diseases [RCV003167113] |
Chr1:36466508 [GRCh38]
Chr1:36932109 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.425G>T (p.Cys142Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001881532] |
Chr1:36473824 [GRCh38]
Chr1:36939425 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NC_000001.10:g.(?_36940958)_(36941294_?)del |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001916156] |
Chr1:36940958..36941294 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.967C>T (p.Pro323Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002033375]|Inborn genetic diseases [RCV003355560] |
Chr1:36472268 [GRCh38]
Chr1:36937869 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001975969] |
Chr1:36479446..36479469 [GRCh38]
Chr1:36945047..36945070 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV001876956] |
Chr1:36479435 [GRCh38]
Chr1:36945036 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1587T>C (p.His529=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002088295] |
Chr1:36468211 [GRCh38]
Chr1:36933812 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1197G>A (p.Leu399=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002105672] |
Chr1:36471521 [GRCh38]
Chr1:36937122 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.361+12C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002088553] |
Chr1:36475365 [GRCh38]
Chr1:36940966 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.456A>G (p.Leu152=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002090287] |
Chr1:36473793 [GRCh38]
Chr1:36939394 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2163C>G (p.Pro721=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002210624] |
Chr1:36466705 [GRCh38]
Chr1:36932306 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1474+19G>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002085908] |
Chr1:36469633 [GRCh38]
Chr1:36935234 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1686C>T (p.Tyr562=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002075051] |
Chr1:36468112 [GRCh38]
Chr1:36933713 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1929T>A (p.Cys643Ter) |
single nucleotide variant |
not provided [RCV002224641] |
Chr1:36467587 [GRCh38]
Chr1:36933188 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1683C>T (p.His561=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002112655] |
Chr1:36468115 [GRCh38]
Chr1:36933716 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.60C>T (p.Pro20=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002206093] |
Chr1:36479437 [GRCh38]
Chr1:36945038 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1356C>T (p.Pro452=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002166733] |
Chr1:36469770 [GRCh38]
Chr1:36935371 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2223A>G (p.Gln741=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002168259] |
Chr1:36466645 [GRCh38]
Chr1:36932246 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1072-9G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002108155] |
Chr1:36471655 [GRCh38]
Chr1:36937256 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1724-15G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002166154] |
Chr1:36467977 [GRCh38]
Chr1:36933578 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1734G>T (p.Leu578=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002190387] |
Chr1:36467952 [GRCh38]
Chr1:36933553 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1704C>T (p.Asn568=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002087287]|CSF3R-related disorder [RCV003978490] |
Chr1:36468094 [GRCh38]
Chr1:36933695 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1864+13G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002197213] |
Chr1:36467809 [GRCh38]
Chr1:36933410 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.105C>T (p.Ile35=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002096007] |
Chr1:36475633 [GRCh38]
Chr1:36941234 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1947T>C (p.Cys649=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002076457] |
Chr1:36467569 [GRCh38]
Chr1:36933170 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.673+20G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002080186] |
Chr1:36473415 [GRCh38]
Chr1:36939016 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.998-19C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002194378] |
Chr1:36472158 [GRCh38]
Chr1:36937759 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.673+16G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002215764] |
Chr1:36473419 [GRCh38]
Chr1:36939020 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1474+15G>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002185872] |
Chr1:36469637 [GRCh38]
Chr1:36935238 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.486-17G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002128509] |
Chr1:36473639 [GRCh38]
Chr1:36939240 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.663C>T (p.Pro221=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002151068] |
Chr1:36473445 [GRCh38]
Chr1:36939046 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.558C>T (p.Cys186=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002134238] |
Chr1:36473550 [GRCh38]
Chr1:36939151 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1044C>T (p.Asp348=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002088346] |
Chr1:36472093 [GRCh38]
Chr1:36937694 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2389T>C (p.Leu797=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002196703] |
Chr1:36466479 [GRCh38]
Chr1:36932080 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.366T>G (p.Pro122=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002132733] |
Chr1:36473883 [GRCh38]
Chr1:36939484 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1608G>A (p.Lys536=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002077994] |
Chr1:36468190 [GRCh38]
Chr1:36933791 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1512G>A (p.Val504=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002110520] |
Chr1:36469220 [GRCh38]
Chr1:36934821 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1071+13G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002093961] |
Chr1:36472053 [GRCh38]
Chr1:36937654 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1095C>T (p.Ser365=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002156813] |
Chr1:36471623 [GRCh38]
Chr1:36937224 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1728C>T (p.Ala576=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002136573] |
Chr1:36467958 [GRCh38]
Chr1:36933559 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1072-8C>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002119275] |
Chr1:36471654 [GRCh38]
Chr1:36937255 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.486-14T>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002098760] |
Chr1:36473636 [GRCh38]
Chr1:36939237 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1958+18A>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002100940] |
Chr1:36467540 [GRCh38]
Chr1:36933141 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.65-8C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002142137] |
Chr1:36475681 [GRCh38]
Chr1:36941282 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2403A>G (p.Val801=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002219688] |
Chr1:36466465 [GRCh38]
Chr1:36932066 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2454C>T (p.Asn818=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002081236] |
Chr1:36466414 [GRCh38]
Chr1:36932015 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.361+17A>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002118900] |
Chr1:36475360 [GRCh38]
Chr1:36940961 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.420C>T (p.Leu140=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002154215] |
Chr1:36473829 [GRCh38]
Chr1:36939430 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.485+13C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002141059] |
Chr1:36473751 [GRCh38]
Chr1:36939352 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.485+19C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002138301] |
Chr1:36473745 [GRCh38]
Chr1:36939346 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1865-20C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002181589] |
Chr1:36467671 [GRCh38]
Chr1:36933272 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.485+18C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002184517] |
Chr1:36473746 [GRCh38]
Chr1:36939347 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.697C>T (p.Arg233Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003116036] |
Chr1:36472663 [GRCh38]
Chr1:36938264 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.610C>T (p.Gln204Ter) |
single nucleotide variant |
not provided [RCV003151493] |
Chr1:36473498 [GRCh38]
Chr1:36939099 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1870T>A (p.Ser624Thr) |
single nucleotide variant |
not specified [RCV003151494] |
Chr1:36467646 [GRCh38]
Chr1:36933247 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1125G>T (p.Trp375Cys) |
single nucleotide variant |
not provided [RCV002265370] |
Chr1:36471593 [GRCh38]
Chr1:36937194 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.703A>G (p.Met235Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003295677] |
Chr1:36472657 [GRCh38]
Chr1:36938258 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002771392] |
Chr1:36472591 [GRCh38]
Chr1:36938192 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1249T>A (p.Ser417Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002771540] |
Chr1:36471469 [GRCh38]
Chr1:36937070 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 |
copy number loss |
not provided [RCV002474552] |
Chr1:35104233..37357913 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1864+17G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002614202] |
Chr1:36467805 [GRCh38]
Chr1:36933406 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2060G>A (p.Gly687Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003287295] |
Chr1:36466808 [GRCh38]
Chr1:36932409 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1292C>T (p.Ala431Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002304589] |
Chr1:36469834 [GRCh38]
Chr1:36935435 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.576C>A (p.His192Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002295565] |
Chr1:36473532 [GRCh38]
Chr1:36939133 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002299731] |
Chr1:36467580 [GRCh38]
Chr1:36933181 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1129C>T (p.Pro377Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002296499] |
Chr1:36471589 [GRCh38]
Chr1:36937190 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002301583] |
Chr1:36466553 [GRCh38]
Chr1:36932154 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002301289] |
Chr1:36473486 [GRCh38]
Chr1:36939087 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.740G>C (p.Gly247Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002303250] |
Chr1:36472620 [GRCh38]
Chr1:36938221 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1003del (p.Thr335fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002903403] |
Chr1:36472134 [GRCh38]
Chr1:36937735 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu) |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002991598] |
Chr1:36467601..36467602 [GRCh38]
Chr1:36933202..36933203 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2128G>A (p.Glu710Lys) |
single nucleotide variant |
not provided [RCV002511583] |
Chr1:36466740 [GRCh38]
Chr1:36932341 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.690dup (p.Met231fs) |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002794868] |
Chr1:36472669..36472670 [GRCh38]
Chr1:36938270..36938271 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.845T>A (p.Val282Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002756337] |
Chr1:36472390 [GRCh38]
Chr1:36937991 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002731369] |
Chr1:36475503 [GRCh38]
Chr1:36941104 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1865-19G>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002996402] |
Chr1:36467670 [GRCh38]
Chr1:36933271 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.734A>T (p.Gln245Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002617594] |
Chr1:36472626 [GRCh38]
Chr1:36938227 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.998-18_998-17dup |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002794874] |
Chr1:36472155..36472156 [GRCh38]
Chr1:36937756..36937757 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.273C>T (p.His91=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002755372] |
Chr1:36475465 [GRCh38]
Chr1:36941066 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002974983] |
Chr1:36466562 [GRCh38]
Chr1:36932163 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1297A>T (p.Thr433Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002843416] |
Chr1:36469829 [GRCh38]
Chr1:36935430 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1577-1G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002865971] |
Chr1:36468222 [GRCh38]
Chr1:36933823 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1672C>T (p.Pro558Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002690105] |
Chr1:36468126 [GRCh38]
Chr1:36933727 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1012C>T (p.Leu338=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002685543] |
Chr1:36472125 [GRCh38]
Chr1:36937726 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.362-27_362-18del |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003075149] |
Chr1:36473905..36473914 [GRCh38]
Chr1:36939506..36939515 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1384G>C (p.Glu462Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002863266] |
Chr1:36469742 [GRCh38]
Chr1:36935343 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.442C>T (p.Pro148Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002731793] |
Chr1:36473807 [GRCh38]
Chr1:36939408 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1958+19C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002751548] |
Chr1:36467539 [GRCh38]
Chr1:36933140 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002685748] |
Chr1:36466427 [GRCh38]
Chr1:36932028 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1931G>A (p.Gly644Glu) |
single nucleotide variant |
not provided [RCV002488690] |
Chr1:36467585 [GRCh38]
Chr1:36933186 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.997+13T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003074613] |
Chr1:36472225 [GRCh38]
Chr1:36937826 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1140G>C (p.Gln380His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002637280] |
Chr1:36471578 [GRCh38]
Chr1:36937179 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.124A>T (p.Ile42Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002762817] |
Chr1:36475614 [GRCh38]
Chr1:36941215 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1569A>T (p.Gln523His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002889198] |
Chr1:36469163 [GRCh38]
Chr1:36934764 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1530C>T (p.Asp510=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002640239] |
Chr1:36469202 [GRCh38]
Chr1:36934803 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003021904] |
Chr1:36466418 [GRCh38]
Chr1:36932019 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1605A>G (p.Leu535=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002871536] |
Chr1:36468193 [GRCh38]
Chr1:36933794 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1176G>A (p.Glu392=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002780698] |
Chr1:36471542 [GRCh38]
Chr1:36937143 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.806G>A (p.Arg269His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002695685] |
Chr1:36472554 [GRCh38]
Chr1:36938155 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002623080] |
Chr1:36466782 [GRCh38]
Chr1:36932383 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002786037] |
Chr1:36479483 [GRCh38]
Chr1:36945084 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.839C>T (p.Ala280Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002623257] |
Chr1:36472521 [GRCh38]
Chr1:36938122 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1865-4G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003055312] |
Chr1:36467655 [GRCh38]
Chr1:36933256 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.705G>A (p.Met235Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002909396] |
Chr1:36472655 [GRCh38]
Chr1:36938256 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1348_1349delinsAT (p.Glu450Met) |
indel |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003054162] |
Chr1:36469777..36469778 [GRCh38]
Chr1:36935378..36935379 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.612G>A (p.Gln204=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002591504] |
Chr1:36473496 [GRCh38]
Chr1:36939097 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.569G>A (p.Arg190His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003079002]|not provided [RCV003992702] |
Chr1:36473539 [GRCh38]
Chr1:36939140 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.263C>T (p.Thr88Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003053297] |
Chr1:36475475 [GRCh38]
Chr1:36941076 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.64+3G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002590779] |
Chr1:36479430 [GRCh38]
Chr1:36945031 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002780208] |
Chr1:36466439 [GRCh38]
Chr1:36932040 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002620328] |
Chr1:36472675 [GRCh38]
Chr1:36938276 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002780452] |
Chr1:36472647 [GRCh38]
Chr1:36938248 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1772A>C (p.Glu591Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002910179] |
Chr1:36467914 [GRCh38]
Chr1:36933515 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1886T>C (p.Ile629Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002887542] |
Chr1:36467630 [GRCh38]
Chr1:36933231 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1475-3C>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002848064] |
Chr1:36469260 [GRCh38]
Chr1:36934861 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.679C>T (p.Leu227=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003037962] |
Chr1:36472681 [GRCh38]
Chr1:36938282 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1285+3A>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002952558] |
Chr1:36471430 [GRCh38]
Chr1:36937031 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1244G>A (p.Gly415Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002799828] |
Chr1:36471474 [GRCh38]
Chr1:36937075 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2040+13G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003085785] |
Chr1:36467217 [GRCh38]
Chr1:36932818 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1670G>A (p.Ser557Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002595743] |
Chr1:36468128 [GRCh38]
Chr1:36933729 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1575G>A (p.Met525Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002985401] |
Chr1:36469157 [GRCh38]
Chr1:36934758 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1144G>A (p.Gly382Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002627302] |
Chr1:36471574 [GRCh38]
Chr1:36937175 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1072-14C>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002791463] |
Chr1:36471660 [GRCh38]
Chr1:36937261 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1959-4C>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002914549] |
Chr1:36467315 [GRCh38]
Chr1:36932916 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.486-5G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002740562] |
Chr1:36473627 [GRCh38]
Chr1:36939228 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2280A>G (p.Thr760=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002765437] |
Chr1:36466588 [GRCh38]
Chr1:36932189 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003056347] |
Chr1:36475383 [GRCh38]
Chr1:36940984 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.153C>T (p.Asn51=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002626981] |
Chr1:36475585 [GRCh38]
Chr1:36941186 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002852963] |
Chr1:36466641 [GRCh38]
Chr1:36932242 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002915049] |
Chr1:36472349 [GRCh38]
Chr1:36937950 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.544G>A (p.Gly182Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002985618] |
Chr1:36473564 [GRCh38]
Chr1:36939165 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1406G>T (p.Ser469Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003005766] |
Chr1:36469720 [GRCh38]
Chr1:36935321 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.484A>C (p.Lys162Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003040435] |
Chr1:36473765 [GRCh38]
Chr1:36939366 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1072-18T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003043122] |
Chr1:36471664 [GRCh38]
Chr1:36937265 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002957710] |
Chr1:36473527 [GRCh38]
Chr1:36939128 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.65-6C>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002676302] |
Chr1:36475679 [GRCh38]
Chr1:36941280 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002807144] |
Chr1:36466535 [GRCh38]
Chr1:36932136 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003088197] |
Chr1:36472240 [GRCh38]
Chr1:36937841 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1346G>T (p.Trp449Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002629898] |
Chr1:36469780 [GRCh38]
Chr1:36935381 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.65-1G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002934074] |
Chr1:36475674 [GRCh38]
Chr1:36941275 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1793T>C (p.Ile598Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002832878] |
Chr1:36467893 [GRCh38]
Chr1:36933494 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.65-2A>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003046321] |
Chr1:36475675 [GRCh38]
Chr1:36941276 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003062855]|Inborn genetic diseases [RCV004070321] |
Chr1:36466794 [GRCh38]
Chr1:36932395 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002598666] |
Chr1:36472349 [GRCh38]
Chr1:36937950 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.843+19T>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002651063] |
Chr1:36472498 [GRCh38]
Chr1:36938099 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002646267] |
Chr1:36466392 [GRCh38]
Chr1:36931993 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1119T>A (p.Val373=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003063602] |
Chr1:36471599 [GRCh38]
Chr1:36937200 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002811170] |
Chr1:36466598 [GRCh38]
Chr1:36932199 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002597528]|CSF3R-related disorder [RCV004756407] |
Chr1:36471536 [GRCh38]
Chr1:36937137 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2040+15G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002602187] |
Chr1:36467215 [GRCh38]
Chr1:36932816 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1518C>T (p.Pro506=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002581885]|CSF3R-related disorder [RCV003953899] |
Chr1:36469214 [GRCh38]
Chr1:36934815 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.485+6G>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002602660] |
Chr1:36473758 [GRCh38]
Chr1:36939359 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.932G>A (p.Arg311His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002598222] |
Chr1:36472303 [GRCh38]
Chr1:36937904 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.634A>G (p.Ser212Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003046758] |
Chr1:36473474 [GRCh38]
Chr1:36939075 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1723+13T>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002627899] |
Chr1:36468062 [GRCh38]
Chr1:36933663 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2029A>G (p.Ile677Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002597990] |
Chr1:36467241 [GRCh38]
Chr1:36932842 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003051159] |
Chr1:36466563 [GRCh38]
Chr1:36932164 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002582458] |
Chr1:36466655 [GRCh38]
Chr1:36932256 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.939C>G (p.Pro313=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002604413] |
Chr1:36472296 [GRCh38]
Chr1:36937897 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.799G>A (p.Glu267Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003072930] |
Chr1:36472561 [GRCh38]
Chr1:36938162 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2349C>T (p.Ser783=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003051998] |
Chr1:36466519 [GRCh38]
Chr1:36932120 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.213C>T (p.Pro71=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002587091] |
Chr1:36475525 [GRCh38]
Chr1:36941126 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002944121]|CSF3R-related disorder [RCV003898658]|Inborn genetic diseases [RCV003269366] |
Chr1:36475640 [GRCh38]
Chr1:36941241 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002585556] |
Chr1:36472671 [GRCh38]
Chr1:36938272 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.204G>A (p.Glu68=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002588106] |
Chr1:36475534 [GRCh38]
Chr1:36941135 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.843+19T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV002588129] |
Chr1:36472498 [GRCh38]
Chr1:36938099 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.963G>T (p.Trp321Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003204810] |
Chr1:36472272 [GRCh38]
Chr1:36937873 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755020]|Inborn genetic diseases [RCV003209175] |
Chr1:36466715 [GRCh38]
Chr1:36932316 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2333C>T (p.Ala778Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003219427] |
Chr1:36466535 [GRCh38]
Chr1:36932136 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1587dup (p.Ala530fs) |
duplication |
not provided [RCV003143846] |
Chr1:36468210..36468211 [GRCh38]
Chr1:36933811..36933812 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.1072-1G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755015]|not provided [RCV003143855] |
Chr1:36471647 [GRCh38]
Chr1:36937248 [GRCh37]
Chr1:1p34.3 |
pathogenic|likely pathogenic |
| NM_000760.4(CSF3R):c.559T>G (p.Cys187Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003779648]|Inborn genetic diseases [RCV003192272] |
Chr1:36473549 [GRCh38]
Chr1:36939150 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2455T>C (p.Phe819Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003357278] |
Chr1:36466413 [GRCh38]
Chr1:36932014 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.*173G>T |
single nucleotide variant |
CSF3R-related disorder [RCV003419124] |
Chr1:36466184 [GRCh38]
Chr1:36931785 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3 |
likely pathogenic |
| NM_000760.4(CSF3R):c.485+8G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003875143] |
Chr1:36473756 [GRCh38]
Chr1:36939357 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1083G>A (p.Leu361=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003874763] |
Chr1:36471635 [GRCh38]
Chr1:36937236 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2309G>A (p.Cys770Tyr) |
single nucleotide variant |
not provided [RCV003480529] |
Chr1:36466559 [GRCh38]
Chr1:36932160 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1900G>A (p.Gly634Ser) |
single nucleotide variant |
not provided [RCV003406350] |
Chr1:36467616 [GRCh38]
Chr1:36933217 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.57C>T (p.Leu19=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592444] |
Chr1:36479440 [GRCh38]
Chr1:36945041 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592466] |
Chr1:36475585 [GRCh38]
Chr1:36941186 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1474+16A>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592137] |
Chr1:36469636 [GRCh38]
Chr1:36935237 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs) |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592234] |
Chr1:36466680..36466681 [GRCh38]
Chr1:36932281..36932282 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2070G>A (p.Thr690=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592155] |
Chr1:36466798 [GRCh38]
Chr1:36932399 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003825747] |
Chr1:36466413 [GRCh38]
Chr1:36932014 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.934T>C (p.Trp312Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003831742] |
Chr1:36472301 [GRCh38]
Chr1:36937902 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592217] |
Chr1:36471613 [GRCh38]
Chr1:36937214 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.1506C>T (p.Ile502=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592094] |
Chr1:36469226 [GRCh38]
Chr1:36934827 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592399] |
Chr1:36473491 [GRCh38]
Chr1:36939092 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1576+11T>C |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592110] |
Chr1:36469145 [GRCh38]
Chr1:36934746 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.674-10C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591488] |
Chr1:36472696 [GRCh38]
Chr1:36938297 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1777G>A (p.Ala593Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591282] |
Chr1:36467909 [GRCh38]
Chr1:36933510 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2038G>A (p.Glu680Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591492] |
Chr1:36467232 [GRCh38]
Chr1:36932833 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.913C>G (p.Leu305Val) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591511] |
Chr1:36472322 [GRCh38]
Chr1:36937923 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1101G>A (p.Arg367=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003828768] |
Chr1:36471617 [GRCh38]
Chr1:36937218 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.891C>T (p.Leu297=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003876015] |
Chr1:36472344 [GRCh38]
Chr1:36937945 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.555C>G (p.His185Gln) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592789] |
Chr1:36473553 [GRCh38]
Chr1:36939154 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2115G>A (p.Lys705=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593005]|CSF3R-related disorder [RCV003901167] |
Chr1:36466753 [GRCh38]
Chr1:36932354 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1399C>A (p.Pro467Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593030] |
Chr1:36469727 [GRCh38]
Chr1:36935328 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1776C>T (p.Pro592=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593089] |
Chr1:36467910 [GRCh38]
Chr1:36933511 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.354C>T (p.Arg118=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593103] |
Chr1:36475384 [GRCh38]
Chr1:36940985 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.918G>A (p.Gln306=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593123] |
Chr1:36472317 [GRCh38]
Chr1:36937918 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1630C>G (p.Gln544Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755794] |
Chr1:36468168 [GRCh38]
Chr1:36933769 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1723+19C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755209] |
Chr1:36468056 [GRCh38]
Chr1:36933657 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755291] |
Chr1:36471623 [GRCh38]
Chr1:36937224 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592671] |
Chr1:36475521 [GRCh38]
Chr1:36941122 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1667A>G (p.Lys556Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755503] |
Chr1:36468131 [GRCh38]
Chr1:36933732 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1072-3C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756601]|CSF3R-related disorder [RCV003981116] |
Chr1:36471649 [GRCh38]
Chr1:36937250 [GRCh37]
Chr1:1p34.3 |
likely benign|uncertain significance |
| NM_000760.4(CSF3R):c.843+9G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592635] |
Chr1:36472508 [GRCh38]
Chr1:36938109 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1869G>T (p.Gly623=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755625] |
Chr1:36467647 [GRCh38]
Chr1:36933248 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.674-15C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755673] |
Chr1:36472701 [GRCh38]
Chr1:36938302 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.990C>T (p.Thr330=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003832015] |
Chr1:36472245 [GRCh38]
Chr1:36937846 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.270C>T (p.Pro90=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755939] |
Chr1:36475468 [GRCh38]
Chr1:36941069 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755811] |
Chr1:36466745 [GRCh38]
Chr1:36932346 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.673+15G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756172] |
Chr1:36473420 [GRCh38]
Chr1:36939021 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592935]|CSF3R-related disorder [RCV004756519] |
Chr1:36473485 [GRCh38]
Chr1:36939086 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756062] |
Chr1:36469229 [GRCh38]
Chr1:36934830 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.464G>C (p.Ser155Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756074] |
Chr1:36473785 [GRCh38]
Chr1:36939386 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756598] |
Chr1:36469765 [GRCh38]
Chr1:36935366 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.624G>A (p.Ala208=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756434] |
Chr1:36473484 [GRCh38]
Chr1:36939085 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755247] |
Chr1:36466448 [GRCh38]
Chr1:36932049 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.762G>A (p.Glu254=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593067] |
Chr1:36472598 [GRCh38]
Chr1:36938199 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2118G>T (p.Pro706=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755394] |
Chr1:36466750 [GRCh38]
Chr1:36932351 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.873G>A (p.Gln291=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755338] |
Chr1:36472362 [GRCh38]
Chr1:36937963 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1558_1559delinsAA (p.Ala520Asn) |
indel |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755646] |
Chr1:36469173..36469174 [GRCh38]
Chr1:36934774..36934775 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1958+20C>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755098] |
Chr1:36467538 [GRCh38]
Chr1:36933139 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.168C>T (p.Asp56=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593108] |
Chr1:36475570 [GRCh38]
Chr1:36941171 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755711] |
Chr1:36466445 [GRCh38]
Chr1:36932046 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1724-10C>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755741] |
Chr1:36467972 [GRCh38]
Chr1:36933573 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1842C>T (p.Leu614=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756362] |
Chr1:36467844 [GRCh38]
Chr1:36933445 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.673+4G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756607] |
Chr1:36473431 [GRCh38]
Chr1:36939032 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.137_138delinsTT (p.Cys46Phe) |
indel |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755237] |
Chr1:36475600..36475601 [GRCh38]
Chr1:36941201..36941202 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592860] |
Chr1:36475464 [GRCh38]
Chr1:36941065 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2306G>A (p.Arg769His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756388] |
Chr1:36466562 [GRCh38]
Chr1:36932163 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.931C>T (p.Arg311Cys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756389] |
Chr1:36472304 [GRCh38]
Chr1:36937905 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1724-7C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756624] |
Chr1:36467969 [GRCh38]
Chr1:36933570 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1488del (p.Gln498fs) |
deletion |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756405] |
Chr1:36469244 [GRCh38]
Chr1:36934845 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.2358C>T (p.Ser786=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756527] |
Chr1:36466510 [GRCh38]
Chr1:36932111 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.361+15C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756528] |
Chr1:36475362 [GRCh38]
Chr1:36940963 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1771G>A (p.Glu591Lys) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755331] |
Chr1:36467915 [GRCh38]
Chr1:36933516 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.997+13T>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755333] |
Chr1:36472225 [GRCh38]
Chr1:36937826 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.821G>A (p.Arg274His) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756176] |
Chr1:36472539 [GRCh38]
Chr1:36938140 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755383] |
Chr1:36468075 [GRCh38]
Chr1:36933676 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2235C>G (p.Gly745=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755517] |
Chr1:36466633 [GRCh38]
Chr1:36932234 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756226] |
Chr1:36479468 [GRCh38]
Chr1:36945069 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755735] |
Chr1:36473602 [GRCh38]
Chr1:36939203 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1116G>C (p.Val372=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755714] |
Chr1:36471602 [GRCh38]
Chr1:36937203 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1865-16C>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755727] |
Chr1:36467667 [GRCh38]
Chr1:36933268 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1262C>T (p.Pro421Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756250]|CSF3R-related disorder [RCV004756535] |
Chr1:36471456 [GRCh38]
Chr1:36937057 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1577-20G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756276] |
Chr1:36468241 [GRCh38]
Chr1:36933842 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1258A>G (p.Thr420Ala) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755093] |
Chr1:36471460 [GRCh38]
Chr1:36937061 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1285+17G>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756022] |
Chr1:36471416 [GRCh38]
Chr1:36937017 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2094G>C (p.Val698=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755986] |
Chr1:36466774 [GRCh38]
Chr1:36932375 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.435G>A (p.Glu145=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755078] |
Chr1:36473814 [GRCh38]
Chr1:36939415 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1764T>C (p.His588=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756340] |
Chr1:36467922 [GRCh38]
Chr1:36933523 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2040+4A>G |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756247] |
Chr1:36467226 [GRCh38]
Chr1:36932827 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2028A>C (p.Thr676=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756567] |
Chr1:36467242 [GRCh38]
Chr1:36932843 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1724-9C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755124] |
Chr1:36467971 [GRCh38]
Chr1:36933572 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1959-6C>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755219] |
Chr1:36467317 [GRCh38]
Chr1:36932918 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.522C>T (p.Ile174=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003756019] |
Chr1:36473586 [GRCh38]
Chr1:36939187 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.263C>A (p.Thr88Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755061] |
Chr1:36475475 [GRCh38]
Chr1:36941076 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593181]|Inborn genetic diseases [RCV004614464] |
Chr1:36471601 [GRCh38]
Chr1:36937202 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592823] |
Chr1:36467588 [GRCh38]
Chr1:36933189 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2160C>T (p.Leu720=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003850632] |
Chr1:36466708 [GRCh38]
Chr1:36932309 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1245G>C (p.Gly415=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593090] |
Chr1:36471473 [GRCh38]
Chr1:36937074 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.463A>G (p.Ser155Gly) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755228] |
Chr1:36473786 [GRCh38]
Chr1:36939387 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1807G>T (p.Ala603Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003592719] |
Chr1:36467879 [GRCh38]
Chr1:36933480 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.957C>T (p.Ser319=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755084] |
Chr1:36472278 [GRCh38]
Chr1:36937879 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1548G>A (p.Gln516=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003755141] |
Chr1:36469184 [GRCh38]
Chr1:36934785 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.126C>A (p.Ile42=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003593076] |
Chr1:36475612 [GRCh38]
Chr1:36941213 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.665T>C (p.Met222Thr) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003842169] |
Chr1:36473443 [GRCh38]
Chr1:36939044 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1765G>A (p.Gly589Ser) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591344] |
Chr1:36467921 [GRCh38]
Chr1:36933522 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1899C>T (p.Phe633=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591182] |
Chr1:36467617 [GRCh38]
Chr1:36933218 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003842261] |
Chr1:36466756 [GRCh38]
Chr1:36932357 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591239] |
Chr1:36471446 [GRCh38]
Chr1:36937047 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003861012] |
Chr1:36471619 [GRCh38]
Chr1:36937220 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003864019] |
Chr1:36467935 [GRCh38]
Chr1:36933536 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003870327] |
Chr1:36471496 [GRCh38]
Chr1:36937097 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.1865-19G>A |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003867624] |
Chr1:36467670 [GRCh38]
Chr1:36933271 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.841C>T (p.Leu281=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003841591] |
Chr1:36472519 [GRCh38]
Chr1:36938120 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.987T>G (p.Thr329=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591162] |
Chr1:36472248 [GRCh38]
Chr1:36937849 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.198A>T (p.Gly66=) |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591311] |
Chr1:36475540 [GRCh38]
Chr1:36941141 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs) |
microsatellite |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003591347] |
Chr1:36471483..36471484 [GRCh38]
Chr1:36937084..36937085 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.296_299del (p.Leu99fs) |
microsatellite |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV003866137] |
Chr1:36475439..36475442 [GRCh38]
Chr1:36941040..36941043 [GRCh37]
Chr1:1p34.3 |
pathogenic |
| NM_000760.4(CSF3R):c.26T>G (p.Leu9Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004370335] |
Chr1:36479471 [GRCh38]
Chr1:36945072 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2041-46G>A |
single nucleotide variant |
CSF3R-related disorder [RCV003907289] |
Chr1:36466873 [GRCh38]
Chr1:36932474 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2041-89C>T |
single nucleotide variant |
CSF3R-related disorder [RCV003927213] |
Chr1:36466916 [GRCh38]
Chr1:36932517 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.2041-35T>C |
single nucleotide variant |
CSF3R-related disorder [RCV003931541] |
Chr1:36466862 [GRCh38]
Chr1:36932463 [GRCh37]
Chr1:1p34.3 |
benign |
| NM_000760.4(CSF3R):c.543C>T (p.Asp181=) |
single nucleotide variant |
CSF3R-related disorder [RCV003983533] |
Chr1:36473565 [GRCh38]
Chr1:36939166 [GRCh37]
Chr1:1p34.3 |
likely benign |
| NM_000760.4(CSF3R):c.361+1G>T |
single nucleotide variant |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV004691667] |
Chr1:36475376 [GRCh38]
Chr1:36940977 [GRCh37]
Chr1:1p34.3 |
likely pathogenic |
| NC_000001.10:g.(?_36931958)_(36937267_?)dup |
duplication |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency [RCV004584132] |
Chr1:36931958..36937267 [GRCh37]
Chr1:1p34.3 |
uncertain significance |
| NM_000760.4(CSF3R):c.2041-29G>A |
single nucleotide variant |
CSF3R-related disorder [RCV004756668] |
Chr1:36466856 [GRCh38]
Chr1:36932457 [GRCh37]
Chr1:1p34.3 |
likely benign |
