SFN[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 2596445	NM_006142.5(SFN):c.58G>A (p.Glu20Lys)	SFN (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160887	NM_006142.5(SFN):c.91G>C (p.Glu31Gln)	SFN (E31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368481	NM_006142.5(SFN):c.94A>G (p.Lys32Glu)	SFN (K32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220668	NM_006142.5(SFN):c.245G>A (p.Arg82His)	SFN (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357107	NM_006142.5(SFN):c.328G>A (p.Glu110Lys)	SFN (E110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160884	NM_006142.5(SFN):c.350G>A (p.Arg117Gln)	SFN (R117Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240789	NM_006142.5(SFN):c.482A>G (p.Glu161Gly)	SFN (E161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518030	NM_006142.5(SFN):c.512G>T (p.Gly171Val)	SFN (G171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465804	NM_006142.5(SFN):c.536T>A (p.Phe179Tyr)	SFN (F179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160885	NM_006142.5(SFN):c.677A>G (p.Asn226Ser)	SFN (N226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160886	NM_006142.5(SFN):c.707G>A (p.Gly236Glu)	SFN (G236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293186	NM_006142.5(SFN):c.715G>C (p.Gly239Arg)	SFN (G239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271518	NM_006142.5(SFN):c.740A>G (p.Gln247Arg)	SFN (Q247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1527725	GRCh37/hg19 1p36.11(chr1:27119557-27547784)	GPATCH3, GPN2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1412090	NC_000001.10:g.(?_27117307)_(27480825_?)dup	GPATCH3, GPN2 +9 more	Duplication	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
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

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Items: 23