SFRP5[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3160919	NM_003015.3(SFRP5):c.947C>T (p.Pro316Leu)	SFRP5 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592340	NM_003015.3(SFRP5):c.935G>C (p.Gly312Ala)	SFRP5 (G312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317863	NM_003015.3(SFRP5):c.893T>A (p.Met298Lys)	SFRP5 (M298K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349373	NM_003015.3(SFRP5):c.861G>T (p.Lys287Asn)	SFRP5 (K287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160918	NM_003015.3(SFRP5):c.848G>A (p.Arg283His)	SFRP5 (R283H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290253	NM_003015.3(SFRP5):c.770A>G (p.Gln257Arg)	SFRP5 (Q257R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317864	NM_003015.3(SFRP5):c.740T>C (p.Met247Thr)	SFRP5 (M247T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160917	NM_003015.3(SFRP5):c.710G>A (p.Arg237His)	SFRP5 (R237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317866	NM_003015.3(SFRP5):c.709C>T (p.Arg237Cys)	SFRP5 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160916	NM_003015.3(SFRP5):c.695C>T (p.Pro232Leu)	SFRP5 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160915	NM_003015.3(SFRP5):c.682A>C (p.Lys228Gln)	SFRP5 (K228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717162	NM_003015.3(SFRP5):c.652C>T (p.Arg218Trp)	SFRP5 (R218W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2474459	NM_003015.3(SFRP5):c.619C>T (p.Arg207Cys)	SFRP5 (R207C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160914	NM_003015.3(SFRP5):c.527C>T (p.Pro176Leu)	SFRP5 (P176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160913	NM_003015.3(SFRP5):c.521C>G (p.Ala174Gly)	SFRP5 (A174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160912	NM_003015.3(SFRP5):c.465C>A (p.Phe155Leu)	SFRP5 (F155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321509	NM_003015.3(SFRP5):c.420G>C (p.Glu140Asp)	SFRP5 (E140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275057	NM_003015.3(SFRP5):c.419A>G (p.Glu140Gly)	SFRP5 (E140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257221	NM_003015.3(SFRP5):c.401G>C (p.Gly134Ala)	SFRP5 (G134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286723	NM_003015.3(SFRP5):c.377C>G (p.Ser126Trp)	SFRP5 (S126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317862	NM_003015.3(SFRP5):c.254T>A (p.Val85Glu)	SFRP5 (V85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379398	NM_003015.3(SFRP5):c.208C>T (p.Arg70Cys)	SFRP5 (R70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541330	NM_003015.3(SFRP5):c.160C>T (p.Leu54Phe)	SFRP5 (L54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255601	NM_003015.3(SFRP5):c.142T>C (p.Ser48Pro)	SFRP5 (S48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609337	NM_003015.3(SFRP5):c.139T>C (p.Tyr47His)	SFRP5 (Y47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160909	NM_003015.3(SFRP5):c.101A>G (p.Tyr34Cys)	SFRP5 (Y34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526937	NM_003015.3(SFRP5):c.65T>C (p.Leu22Pro)	SFRP5 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462187	NM_003015.3(SFRP5):c.34A>C (p.Thr12Pro)	SFRP5 (T12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317865	NM_003015.3(SFRP5):c.25G>A (p.Gly9Ser)	SFRP5 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370078	NM_003015.3(SFRP5):c.25G>C (p.Gly9Arg)	SFRP5 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160911	NM_003015.3(SFRP5):c.22G>A (p.Gly8Arg)	SFRP5 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160910	NM_003015.3(SFRP5):c.19G>T (p.Gly7Trp)	SFRP5 (G7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336925	NM_003015.3(SFRP5):c.19G>C (p.Gly7Arg)	SFRP5 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317861	NM_003015.3(SFRP5):c.4C>T (p.Arg2Trp)	SFRP5 (R2W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063165	GRCh37/hg19 10q24.2(chr10:99490651-99552148)x1	SFRP5, ZFYVE27	Copy number loss	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 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	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 563698	GRCh37/hg19 10q24.2(chr10:99476328-99552148)x1	MARVELD1, SFRP5 +1 more	Copy number loss	not provided	GUncertain significance
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 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	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 253903	GRCh37/hg19 10q24.2(chr10:99435773-99590136)x3	ZFYVE27, AVPI1 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 54