CSF2[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	ACSL6, ACSL6-AS1 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 545310	NC_000005.10:g.(?_131428263)_(132208822_?)del	ACSL6, ACSL6-AS1 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	LOC129994691, LOC129994692 +263 more	Copy number loss	See cases	GPathogenic
Select item 2238590	NM_000758.4(CSF2):c.58G>A (p.Ala20Thr)	CSF2 (A20T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077993	NM_000758.4(CSF2):c.61C>T (p.Arg21Cys)	CSF2 (R21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379591	NM_000758.4(CSF2):c.65C>T (p.Ser22Leu)	CSF2 (S22L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 780564	NM_000758.4(CSF2):c.66G>A (p.Ser22=)	CSF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719675	NM_000758.4(CSF2):c.81G>A (p.Thr27=)	CSF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2395678	NM_000758.4(CSF2):c.156G>C (p.Glu52Asp)	CSF2 (E52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077991	NM_000758.4(CSF2):c.251G>C (p.Arg84Pro)	CSF2 (R84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792010	NM_000758.4(CSF2):c.276C>T (p.Gly92=)	CSF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077992	NM_000758.4(CSF2):c.316C>A (p.Pro106Thr)	CSF2 (P106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787041	NM_000758.4(CSF2):c.327G>A (p.Pro109=)	CSF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710325	NM_000758.4(CSF2):c.344C>T (p.Thr115Ile)	CSF2 (T115I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	ACSL6, CDC42SE2 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 685993	GRCh37/hg19 5q31.1(chr5:131107107-131528744)x3	ACSL6, CSF2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 29