PPP3CB[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3217807	NM_021132.4(PPP3CB):c.1525A>G (p.Thr509Ala)	PPP3CB (T500A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611033	NM_021132.4(PPP3CB):c.1492G>T (p.Ala498Ser)	PPP3CB (A498S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265665	NM_021132.4(PPP3CB):c.1381A>G (p.Ile461Val)	PPP3CB (I461V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208224	NM_021132.4(PPP3CB):c.261G>A (p.Met87Ile)	PPP3CB (M87I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528292	NM_021132.4(PPP3CB):c.154G>A (p.Val52Ile)	PPP3CB (V52I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596345	NM_021132.4(PPP3CB):c.140A>T (p.Asp47Val)	PPP3CB (D47V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536603	NM_021132.4(PPP3CB):c.64G>A (p.Gly22Arg)	LOC130004079, PPP3CB +1 more (G22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527593	GRCh37/hg19 10q22.2(chr10:75089777-75359997)	ANXA7, CFAP70 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 688655	GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1	AGAP5, C10orf55 +12 more	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 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 442888	GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3	ADK, AGAP5 +15 more	Copy number gain	See cases	GUncertain significance
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

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Items: 25