ClinVar for Gene (Select 1435) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269748	NM_000757.6(CSF1):c.1234G>A (p.Gly412Ser)	CSF1 (G412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269747	NM_000757.6(CSF1):c.1362G>T (p.Glu454Asp)	CSF1 (E454D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269746	NM_000757.6(CSF1):c.467C>T (p.Thr156Ile)	CSF1 (T156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269745	NM_000757.6(CSF1):c.760C>T (p.Pro254Ser)	CSF1 (P254S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269744	NM_000757.6(CSF1):c.1076C>T (p.Pro359Leu)	CSF1 (P359L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3269742	NM_000757.6(CSF1):c.535T>G (p.Ser179Ala)	CSF1 (S179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269741	NM_000757.6(CSF1):c.1633C>G (p.Gln545Glu)	CSF1 (Q247E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269740	NM_000757.6(CSF1):c.1534G>A (p.Val512Ile)	CSF1 (V396I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269739	NM_000757.6(CSF1):c.1409G>A (p.Arg470His)	CSF1 (R470H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077985	NM_000757.6(CSF1):c.857C>A (p.Ala286Asp)	CSF1 (A286D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077983	NM_000757.6(CSF1):c.743G>A (p.Ser248Asn)	CSF1 (S248N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077982	NM_000757.6(CSF1):c.631C>T (p.Leu211Phe)	CSF1 (L211F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077981	NM_000757.6(CSF1):c.403G>C (p.Val135Leu)	CSF1 (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077979	NM_000757.6(CSF1):c.35C>G (p.Pro12Arg)	CSF1 (P12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077978	NM_000757.6(CSF1):c.1484A>G (p.Glu495Gly)	CSF1 (E197G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077977	NM_000757.6(CSF1):c.1442A>T (p.His481Leu)	CSF1 (H183L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077976	NM_000757.6(CSF1):c.1345C>T (p.Arg449Trp)	CSF1 (R449W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077975	NM_000757.6(CSF1):c.1300G>C (p.Val434Leu)	CSF1 (V434L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2604059	NM_000757.6(CSF1):c.10C>T (p.Pro4Ser)	CSF1 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553823	NM_000757.6(CSF1):c.1289C>T (p.Ser430Phe)	CSF1 (S430F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545787	NM_000757.6(CSF1):c.733G>C (p.Asp245His)	CSF1 (D245H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532237	NM_000757.6(CSF1):c.465A>C (p.Glu155Asp)	CSF1 (E155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483953	NM_000757.6(CSF1):c.416A>G (p.Tyr139Cys)	CSF1 (Y139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2391580	NM_000757.6(CSF1):c.776A>G (p.Gln259Arg)	CSF1 (Q259R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377361	NM_000757.6(CSF1):c.392A>C (p.Asp131Ala)	CSF1 (D131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357652	NM_000757.6(CSF1):c.826G>A (p.Gly276Ser)	CSF1 (G276S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351384	NM_000757.6(CSF1):c.959G>T (p.Gly320Val)	CSF1 (G320V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315752	NM_000757.6(CSF1):c.7G>A (p.Ala3Thr)	CSF1 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314053	NM_000757.6(CSF1):c.1577A>G (p.Gln526Arg)	CSF1 (Q228R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282845	NM_000757.6(CSF1):c.844C>A (p.Pro282Thr)	CSF1 (P282T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210625	NM_000757.6(CSF1):c.1292C>T (p.Ser431Leu)	CSF1 (S431L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 775573	NM_000757.6(CSF1):c.876G>A (p.Glu292=)	CSF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 745764	NM_000757.6(CSF1):c.1592C>T (p.Ala531Val)	CSF1 (A415V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 736032	NM_000757.6(CSF1):c.1212G>A (p.Arg404=)	CSF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720256	NM_000757.6(CSF1):c.1533C>T (p.Ala511=)	CSF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686929	GRCh37/hg19 1p13.3(chr1:110295035-110587956)x1	AHCYL1, CSF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54