ClinVar for Gene (Select 79176) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3278040	NM_024326.4(FBXL15):c.746C>T (p.Ser249Leu)	FBXL15 (S249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278039	NM_024326.4(FBXL15):c.335G>A (p.Arg112Gln)	FBXL15 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093493	NM_024326.4(FBXL15):c.775G>T (p.Ala259Ser)	FBXL15 (A259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093492	NM_024326.4(FBXL15):c.39G>T (p.Glu13Asp)	FBXL15, LOC130004602 (E13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093491	NM_024326.4(FBXL15):c.367G>A (p.Gly123Ser)	FBXL15 (G123S)	Single nucleotide variant (missense variant)	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)	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 2287966	NM_024326.4(FBXL15):c.10C>G (p.Pro4Ala)	FBXL15, LOC130004602 (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280801	NM_024326.4(FBXL15):c.463G>T (p.Gly155Trp)	FBXL15 (G155W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257260	NM_024326.4(FBXL15):c.665A>G (p.His222Arg)	FBXL15, LOC130004604 (H222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808525	GRCh37/hg19 10q24.32(chr10:104031306-104366150)x3	ACTR1A, C10orf95 +8 more	Copy number gain	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 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)	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 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 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 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 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 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: 28