LOC111188154[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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +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 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1652022	NM_001288705.3(CSF1R):c.729+13A>G	CSF1R, LOC111188154	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 352165	NM_001288705.3(CSF1R):c.726C>T (p.Thr242=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +2 more	GBenign
Select item 1309896	NM_001288705.3(CSF1R):c.716ACA[2] (p.Asn241del)	CSF1R, LOC111188154 (N241del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2136597	NM_001288705.3(CSF1R):c.722A>C (p.Asn241Thr)	CSF1R, LOC111188154 (N241T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 352166	NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp)	CSF1R, LOC111188154 (N241D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids +1 more	GBenign
Select item 904889	NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys)	CSF1R, LOC111188154 (N240K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GLikely benign
Select item 1956334	NM_001288705.3(CSF1R):c.705C>A (p.Val235=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1328268	NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly)	CSF1R, LOC111188154 (V235G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2121272	NM_001288705.3(CSF1R):c.700G>A (p.Asp234Asn)	CSF1R, LOC111188154 (D234N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2124385	NM_001288705.3(CSF1R):c.698T>A (p.Phe233Tyr)	CSF1R, LOC111188154 (F85Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1574365	NM_001288705.3(CSF1R):c.685G>A (p.Val229Ile)	CSF1R, LOC111188154 (V229I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3033679	NM_001288705.3(CSF1R):c.684C>T (p.Ser228=)	LOC111188154, CSF1R	Single nucleotide variant (synonymous variant +1 more)	CSF1R-related disorder	GLikely benign
Select item 3005930	NM_001288705.3(CSF1R):c.670T>A (p.Cys224Ser)	CSF1R, LOC111188154 (C76S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2230219	NM_001288705.3(CSF1R):c.668T>C (p.Val223Ala)	CSF1R, LOC111188154 (V223A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1719882	NM_001288705.3(CSF1R):c.668T>G (p.Val223Gly)	CSF1R, LOC111188154 (V223G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831775	NM_001288705.3(CSF1R):c.666C>G (p.Ile222Met)	CSF1R, LOC111188154 (I74M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1571296	NM_001288705.3(CSF1R):c.666C>T (p.Ile222=)	CSF1R, LOC111188154	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 870766	NM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr)	CSF1R, LOC111188154 (A72T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1465714	NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp)	CSF1R, LOC111188154 (A219D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 374038	NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln)	CSF1R, LOC111188154 (R216Q +1 more)	Single nucleotide variant (missense variant +1 more)	Parkinsonian disorder +1 more	GConflicting classifications of pathogenicity
Select item 1413447	NM_001288705.3(CSF1R):c.643A>G (p.Ile215Val)	CSF1R, LOC111188154 (I215V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 904890	NM_001288705.3(CSF1R):c.641G>A (p.Arg214Gln)	CSF1R, LOC111188154 (R66Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse leukoencephalopathy with spheroids	GLikely benign
Select item 1309482	NM_001288705.3(CSF1R):c.631G>A (p.Glu211Lys)	CSF1R, LOC111188154 (E211K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1407901	NM_001288705.3(CSF1R):c.629C>A (p.Ala210Glu)	CSF1R, LOC111188154 (A210E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2986376	NM_001288705.3(CSF1R):c.626C>T (p.Pro209Leu)	CSF1R, LOC111188154 (P209L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 29