Unique variants in gene CSF1R

Information The variants shown are described using the NM_005211.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 2 - c.84T>C benign r.(=) p.(=) g.149460553A>G - CSF1R:c.84T>C (=) - CSF1R_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-?/. 1 - c.110C>T likely benign r.(?) p.(Thr37Met) g.149460527G>A - CSF1R:c.110C>T (T37M) - CSF1R_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.220G>A likely benign r.(?) p.(Ala74Thr) g.149460417C>T - CSF1R:c.220G>A (A74T) - CSF1R_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.282C>T likely benign r.(=) p.(=) g.149460355G>A - CSF1R:c.282C>T (=) - CSF1R_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/. 2 - c.294C>T benign, likely benign r.(=) p.(=) g.149460343G>A - CSF1R:c.294C>T (=) - CSF1R_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.307+5G>A VUS r.spl? p.? g.149460325C>T - CSF1R:c.307+5G>A - CSF1R_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.316C>T likely benign r.(?) p.(Arg106Trp) g.149459891G>A - CSF1R:c.316C>T (R106W), CSF1R:NM_005211.3:c.316C>T - CSF1R_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.593-317A>G - - p.(=) g.149458128T>C g.150078565T>C - - CSF1R_000001 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.593-8G>A likely pathogenic r.(=) p.(=) g.149457819C>T - CSF1R:c.593-8G>A - CSF1R_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.726C>T benign r.(=) p.(=) g.149457678G>A - CSF1R:c.726C>T (=) - CSF1R_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.733G>T likely benign r.(?) p.(Ala245Ser) g.149456995C>A - CSF1R:c.733G>T (A245S) - CSF1R_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.764A>T likely benign r.(?) p.(Asn255Ile) g.149456964T>A - CSF1R:c.764A>T (N255I) - CSF1R_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.796G>A likely benign - - g.149456932C>T - CSF1R:NM_005211.3:c.796G>A - CSF1R_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.802G>A VUS r.(?) p.(Val268Ile) g.149456926C>T - CSF1R:c.802G>A (V268I) - CSF1R_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.835G>A likely benign - - g.149456893C>T - CSF1R:NM_005211.3:c.835G>A - CSF1R_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.881G>A VUS r.(?) p.(Arg294Gln) g.149456847C>T - CSF1R:c.881G>A (R294Q) - CSF1R_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1085A>G benign r.(?) p.(His362Arg) g.149450132T>C - CSF1R:c.1085A>G (H362R) - CSF1R_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-?/. 2 - c.1237G>A likely benign r.(?) p.(Gly413Ser) g.149449827C>T - CSF1R:c.1237G>A (G413S), CSF1R:NM_005211.3:c.1237G>A - CSF1R_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Leiden
?/. 1 - c.1466del VUS r.(?) p.(Asn489Thrfs*123) g.149449480del - CSF1R:NM_005211.3:c.1466del (Asn489fs) - CSF1R_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1479T>G VUS r.(?) p.(Ser493Arg) g.149449467A>C - CSF1R:c.1479T>G (S493R) - CSF1R_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1626+3G>A likely benign r.spl? p.? g.149447775C>T - CSF1R:c.1626+3G>A - CSF1R_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.1626+7C>T benign r.(=) p.(=) g.149447771G>A - CSF1R:c.1626+7C>T - CSF1R_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-?/. 1 - c.1626+12C>T likely benign r.(=) p.(=) g.149447766G>A - CSF1R:c.1626+12C>T - CSF1R_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1626+13G>A likely benign r.(=) p.(=) g.149447765C>T - CSF1R:c.1626+13G>A - CSF1R_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2132+5C>T likely benign r.spl? p.? g.149439258G>A - CSF1R:c.2132+5C>T - CSF1R_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2190C>T likely benign r.(=) p.(=) g.149437098G>A - CSF1R:c.2190C>T (=) - CSF1R_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2217G>T VUS - - g.149437071C>A - CSF1R:NM_005211.3:c.2217G>T, NM_014983.2:c.*5316C>A - CSF1R_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2222-18C>T likely benign r.(=) p.(=) g.149436965G>A - CSF1R:c.2222-18C>T - CSF1R_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2343G>A likely benign - - g.149435881C>T - CSF1R:NM_005211.3:c.2343G>A, NM_014983.2:c.*4126C>T - CSF1R_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2381T>C pathogenic r.(?) p.(Ile794Thr) g.149435843A>G - CSF1R:c.2381T>C (I794T) - CSF1R_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.2535C>G benign, likely benign r.(=) p.(=) g.149435608G>C - CSF1R:c.2535C>G (=), CSF1R:NM_005211.3:c.2535C>G, NM_014983.2:c.*3853G>C - CSF1R_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.2554+3G>A likely benign r.spl? p.? g.149435586C>T - CSF1R:c.2554+3G>A - CSF1R_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.2709C>T likely benign r.(=) p.(=) g.149433939G>A - CSF1R:c.2709C>T (=), CSF1R:NM_005211.3:c.2709C>T, NM_014983.2:c.*2184G>A - CSF1R_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Leiden
-?/. 1 - c.2760G>C likely benign r.(?) p.(Glu920Asp) g.149433888C>G - CSF1R:c.2760G>C (E920D) - CSF1R_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2799T>C likely benign r.(=) p.(=) g.149433752A>G - CSF1R:NM_005211.3:c.2799T>C, NM_014983.2:c.*1997A>G, CSF1R:c.2799T>C (=) - CSF1R_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 1 - c.2805C>T VUS - - g.149433746G>A - CSF1R:NM_005211.3:c.2805C>T - CSF1R_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.2841T>C likely benign r.(=) p.(=) g.149433710A>G - CSF1R:NM_005211.3:c.2841T>C, NM_014983.2:c.*1955A>G, CSF1R:c.2841T>C (=) - CSF1R_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
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