ClinVar for Gene (Select 81855) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338574	NM_030971.6(SFXN3):c.821G>A (p.Cys274Tyr)	SFXN3 (C183Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3317898	NM_030971.6(SFXN3):c.838C>T (p.Pro280Ser)	SFXN3 (P280S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317897	NM_030971.6(SFXN3):c.148G>A (p.Val50Met)	SFXN3 (V50M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317895	NM_030971.6(SFXN3):c.157T>C (p.Tyr53His)	SFXN3 (Y53H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317894	NM_030971.6(SFXN3):c.659C>T (p.Ala220Val)	SFXN3 (A207V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160974	NM_030971.6(SFXN3):c.740T>G (p.Met247Arg)	SFXN3 (M211R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160973	NM_030971.6(SFXN3):c.625G>A (p.Glu209Lys)	SFXN3 (E196K +5 more)	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 2623492	NM_030971.6(SFXN3):c.445G>A (p.Ala149Thr)	SFXN3 (A153T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2547442	NM_030971.6(SFXN3):c.479C>T (p.Thr160Met)	SFXN3 (T124M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528802	NM_030971.6(SFXN3):c.790G>C (p.Ala264Pro)	SFXN3 (A251P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515665	NM_030971.6(SFXN3):c.713C>T (p.Pro238Leu)	SFXN3 (P225L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486062	NM_030971.6(SFXN3):c.130G>A (p.Glu44Lys)	SFXN3 (E44K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468135	NM_030971.6(SFXN3):c.800A>G (p.Gln267Arg)	SFXN3 (Q176R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2466591	NM_030971.6(SFXN3):c.481G>A (p.Ala161Thr)	SFXN3 (A148T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 2392040	NM_030971.6(SFXN3):c.403C>T (p.Arg135Cys)	SFXN3 (R135C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365936	NM_030971.6(SFXN3):c.404G>A (p.Arg135His)	SFXN3 (R143H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252500	NM_030971.6(SFXN3):c.512T>C (p.Leu171Pro)	SFXN3 (L158P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234387	NM_030971.6(SFXN3):c.272G>A (p.Arg91His)	SFXN3 (R95H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2214453	NM_030971.6(SFXN3):c.775C>T (p.Arg259Cys)	SFXN3 (R168C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204905	NM_030971.6(SFXN3):c.664A>G (p.Lys222Glu)	SFXN3 (K226E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 983023	NM_030971.6(SFXN3):c.628del (p.Ala210fs)	SFXN3 (A214fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
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 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)	INA, INPP5A +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	A1CF, ABCC2 +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 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 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 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37