Related gene-specific medical variations for Gene (Select 1439) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2995807	NM_000395.3(CSF2RB):c.201-16T>C	LOC126863140, CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980644	NM_000395.3(CSF2RB):c.201-17G>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968569	NM_000395.3(CSF2RB):c.323T>C (p.Val108Ala)	CSF2RB, LOC126863140 (V108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919238	NM_000395.3(CSF2RB):c.318T>C (p.Thr106=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887829	NM_000395.3(CSF2RB):c.305G>A (p.Ser102Asn)	CSF2RB, LOC126863140 (S102N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871431	NM_000395.3(CSF2RB):c.304A>T (p.Ser102Cys)	CSF2RB, LOC126863140 (S102C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829998	NM_000395.3(CSF2RB):c.299G>T (p.Cys100Phe)	CSF2RB, LOC126863140 (C100F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827081	NM_000395.3(CSF2RB):c.218T>A (p.Val73Glu)	CSF2RB, LOC126863140 (V73E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808512	NM_000395.3(CSF2RB):c.211G>A (p.Glu71Lys)	CSF2RB, LOC126863140 (E71K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705794	NM_000395.3(CSF2RB):c.201-8C>T	LOC126863140, CSF2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2440578	NM_000395.3(CSF2RB):c.2245G>C (p.Ala749Pro)	CSF2RB (A749P +1 more)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 5	GUncertain significance
Select item 2167583	NM_000395.3(CSF2RB):c.367C>A (p.Leu123Ile)	CSF2RB, LOC126863140 (L123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049837	NM_000395.3(CSF2RB):c.269G>A (p.Arg90His)	CSF2RB, LOC126863140 (R90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009716	NM_000395.3(CSF2RB):c.312C>T (p.Val104=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1937963	NM_000395.3(CSF2RB):c.201-18C>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935127	NM_000395.3(CSF2RB):c.373G>A (p.Val125Ile)	CSF2RB, LOC126863140 (V125I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930484	NM_000395.3(CSF2RB):c.291C>T (p.Val97=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907815	NM_000395.3(CSF2RB):c.391+11G>A	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906944	NM_000395.3(CSF2RB):c.365G>A (p.Arg122Gln)	CSF2RB, LOC126863140 (R122Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902348	NM_000395.3(CSF2RB):c.391+8G>T	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655278	NM_000395.3(CSF2RB):c.201-12C>G	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638210	NM_000395.3(CSF2RB):c.313G>A (p.Val105Ile)	CSF2RB, LOC126863140 (V105I)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1616065	NM_000395.3(CSF2RB):c.204C>T (p.Asp68=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594723	NM_000395.3(CSF2RB):c.321C>T (p.Asp107=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573849	NM_000395.3(CSF2RB):c.246C>G (p.Pro82=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559404	NM_000395.3(CSF2RB):c.267C>T (p.Pro89=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552922	NM_000395.3(CSF2RB):c.237T>C (p.Asp79=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523094	NM_000395.3(CSF2RB):c.364C>T (p.Arg122Trp)	CSF2RB, LOC126863140 (R122W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1493984	NM_000395.3(CSF2RB):c.389A>G (p.His130Arg)	CSF2RB, LOC126863140 (H130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1435767	NM_000395.3(CSF2RB):c.322G>A (p.Val108Ile)	CSF2RB, LOC126863140 (V108I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398522	NM_000395.3(CSF2RB):c.364C>A (p.Arg122=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302214	NM_000395.3(CSF2RB):c.274G>A (p.Val92Met)	CSF2RB, LOC126863140 (V92M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1288895	NM_000395.3(CSF2RB):c.201-294C>T	CSF2RB, LOC126863140	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 1271192	NM_000395.3(CSF2RB):c.-172-230T>C	CSF2RB, LOC130067337	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 1170943	NM_000395.3(CSF2RB):c.201-17G>A	CSF2RB, LOC126863140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788754	NM_000395.3(CSF2RB):c.273C>T (p.Cys91=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 735775	NM_000395.3(CSF2RB):c.372C>T (p.Thr124=)	CSF2RB, LOC126863140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 40