SFXN2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 149001	GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1	ARL3, AS3MT +20 more	Copy number loss	See cases	GUncertain significance
Select item 3160971	NM_178858.6(SFXN2):c.34G>A (p.Ala12Thr)	SFXN2 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304068	NM_178858.6(SFXN2):c.52C>T (p.Arg18Cys)	SFXN2 (R18C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2470312	NM_178858.6(SFXN2):c.92C>T (p.Thr31Met)	SFXN2 (T31M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345129	NM_178858.6(SFXN2):c.100C>T (p.Arg34Cys)	SFXN2 (R34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305525	NM_178858.6(SFXN2):c.101G>A (p.Arg34His)	SFXN2 (R34H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342999	NM_178858.6(SFXN2):c.122G>A (p.Arg41Gln)	SFXN2 (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3160970	NM_178858.6(SFXN2):c.230C>A (p.Ala77Asp)	SFXN2 (A77D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487515	NM_178858.6(SFXN2):c.234C>A (p.Phe78Leu)	SFXN2 (F78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410970	NM_178858.6(SFXN2):c.241G>A (p.Asp81Asn)	SFXN2 (D81N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612718	NM_178858.6(SFXN2):c.244A>G (p.Thr82Ala)	SFXN2 (T82A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388768	NM_178858.6(SFXN2):c.295G>A (p.Gly99Ser)	SFXN2 (G99S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558396	NM_178858.6(SFXN2):c.308C>T (p.Thr103Met)	SFXN2 (T103M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543290	NM_178858.6(SFXN2):c.314T>C (p.Phe105Ser)	SFXN2 (F105S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326657	NM_178858.6(SFXN2):c.317T>G (p.Met106Arg)	SFXN2 (M106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160972	NM_178858.6(SFXN2):c.401A>G (p.Asn134Ser)	SFXN2 (N134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243893	NM_178858.6(SFXN2):c.484G>T (p.Val162Leu)	SFXN2 (V162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611588	NM_178858.6(SFXN2):c.512C>T (p.Ala171Val)	SFXN2 (A171V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531454	NM_178858.6(SFXN2):c.515C>T (p.Pro172Leu)	SFXN2 (P172L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352658	NM_178858.6(SFXN2):c.518C>T (p.Pro173Leu)	SFXN2 (P173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218714	NM_178858.6(SFXN2):c.530G>A (p.Arg177His)	SFXN2 (R177H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359899	NM_178858.6(SFXN2):c.547G>A (p.Ala183Thr)	SFXN2 (A183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212531	NM_178858.6(SFXN2):c.560C>T (p.Ala187Val)	SFXN2 (A187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364421	NM_178858.6(SFXN2):c.587G>A (p.Arg196Gln)	SFXN2 (R196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 2402528	NM_178858.6(SFXN2):c.814G>A (p.Gly272Arg)	SFXN2 (G272R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359451	NM_178858.6(SFXN2):c.841G>A (p.Val281Met)	SFXN2 (V281M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	HPSE2, INA +95 more	Duplication	not provided	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1499287	NC_000010.10:g.(?_104262628)_(104595248_?)dup	ARL3, CYP17A1 +4 more	Duplication	Medulloblastoma +1 more	GUncertain significance
Select item 1460216	NC_000010.10:g.(?_104262628)_(104595248_?)del	ARL3, CYP17A1 +4 more	Deletion	Gorlin syndrome +1 more	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 48