"GeneDx"[submitter] AND "CSF2RB"[gene] - ClinVar

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Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 1271192	NM_000395.3(CSF2RB):c.-172-230T>C	CSF2RB, LOC130067337	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178164	NM_000395.3(CSF2RB):c.-172-164C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266043	NM_000395.3(CSF2RB):c.-172-108A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238097	NM_000395.3(CSF2RB):c.-172-64G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283425	NM_000395.3(CSF2RB):c.-172-45C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215938	NM_000395.3(CSF2RB):c.-129T>G	CSF2RB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1187413	NM_000395.3(CSF2RB):c.-75C>T	CSF2RB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1225537	NM_000395.3(CSF2RB):c.76+101C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263392	NM_000395.3(CSF2RB):c.76+121G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183637	NM_000395.3(CSF2RB):c.76+154G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275922	NM_000395.3(CSF2RB):c.76+190T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245390	NM_000395.3(CSF2RB):c.77-277G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264734	NM_000395.3(CSF2RB):c.77-205T>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170100	NM_000395.3(CSF2RB):c.200+16G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268262	NM_000395.3(CSF2RB):c.200+27C>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221095	NM_000395.3(CSF2RB):c.200+180G>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288895	NM_000395.3(CSF2RB):c.201-294C>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181284	NM_000395.3(CSF2RB):c.201-247C>G	LOC126863140, CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288350	NM_000395.3(CSF2RB):c.201-169G>A	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277712	NM_000395.3(CSF2RB):c.201-56T>C	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302214	NM_000395.3(CSF2RB):c.274G>A (p.Val92Met)	CSF2RB, LOC126863140 (V92M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1216999	NM_000395.3(CSF2RB):c.392-296G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217460	NM_000395.3(CSF2RB):c.392-217C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265371	NM_000395.3(CSF2RB):c.392-39G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226554	NM_000395.3(CSF2RB):c.702C>T (p.Cys234=)	CSF2RB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1202299	NM_000395.3(CSF2RB):c.718+123C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226555	NM_000395.3(CSF2RB):c.745G>C (p.Glu249Gln)	CSF2RB (E249Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1219085	NM_000395.3(CSF2RB):c.855-37T>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226556	NM_000395.3(CSF2RB):c.934G>A (p.Asp312Asn)	CSF2RB (D312N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1707250	NM_000395.3(CSF2RB):c.1012+103T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241332	NM_000395.3(CSF2RB):c.1013-312_1013-311dup	CSF2RB	Duplication (intron variant)	not provided	GBenign
Select item 1279417	NM_000395.3(CSF2RB):c.1013-311del	CSF2RB	Deletion (intron variant)	not provided	GBenign
Select item 1256893	NM_000395.3(CSF2RB):c.1013-312_1013-311del	CSF2RB	Deletion (intron variant)	not provided	GBenign
Select item 1194893	NM_000395.3(CSF2RB):c.1013-308G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706764	NM_000395.3(CSF2RB):c.1013-61C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275163	NM_000395.3(CSF2RB):c.1013-56A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164952	NM_000395.3(CSF2RB):c.1152+20G>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243858	NM_000395.3(CSF2RB):c.1152+22G>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274480	NM_000395.3(CSF2RB):c.1152+165G>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214875	NM_000395.3(CSF2RB):c.1152+320T>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214168	NM_000395.3(CSF2RB):c.1153-238G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276886	NM_000395.3(CSF2RB):c.1153-198T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226544	NM_000395.3(CSF2RB):c.1153-13T>C	CSF2RB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 226545	NM_000395.3(CSF2RB):c.1278C>T (p.Ser426=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1194071	NM_000395.3(CSF2RB):c.1315+38C>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241522	NM_000395.3(CSF2RB):c.1315+46T>C	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243992	NM_000395.3(CSF2RB):c.1315+143A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286189	NM_000395.3(CSF2RB):c.1315+213A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181331	NM_000395.3(CSF2RB):c.1316-88A>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206491	NM_000395.3(CSF2RB):c.1407-65G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244487	NM_000395.3(CSF2RB):c.1464+279del	CSF2RB	Deletion (intron variant)	not provided	GBenign
Select item 1200623	NM_000395.3(CSF2RB):c.1465-243C>G	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244644	NM_000395.3(CSF2RB):c.1569-310G>T	CSF2RB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196973	NM_000395.3(CSF2RB):c.1569-52G>A	CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226547	NM_000395.3(CSF2RB):c.1569-13T>G	CSF2RB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1930740	NM_000395.3(CSF2RB):c.1798C>T (p.Arg600Cys)	CSF2RB (R606C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504754	NM_000395.3(CSF2RB):c.1807C>A (p.Pro603Thr)	CSF2RB (P603T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 226549	NM_000395.3(CSF2RB):c.1944A>G (p.Pro648=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 226550	NM_000395.3(CSF2RB):c.1954G>A (p.Val652Met)	CSF2RB (V652M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 226551	NM_000395.3(CSF2RB):c.2086C>T (p.Pro696Ser)	CSF2RB (P696S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 402566	NM_000395.3(CSF2RB):c.2124del (p.Ser709fs)	CSF2RB (S709fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 226552	NM_000395.3(CSF2RB):c.2400G>A (p.Pro800=)	CSF2RB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 226553	NM_000395.3(CSF2RB):c.2430C>A (p.Pro810=)	CSF2RB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1285986	NM_000395.3(CSF2RB):c.*115G>A	CSF2RB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 67