PLA2G12B[gene] - ClinVar

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Items: 28

	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 3214055	NM_032562.5(PLA2G12B):c.560G>A (p.Cys187Tyr)	LOC124416837, PLA2G12B (C186Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214054	NM_032562.5(PLA2G12B):c.511A>G (p.Thr171Ala)	LOC124416837, PLA2G12B (T170A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214053	NM_032562.5(PLA2G12B):c.505G>A (p.Val169Met)	LOC124416837, PLA2G12B (V168M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214052	NM_032562.5(PLA2G12B):c.416C>T (p.Ser139Leu)	PLA2G12B (S49L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214051	NM_032562.5(PLA2G12B):c.407G>T (p.Cys136Phe)	PLA2G12B (C46F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334427	NM_032562.5(PLA2G12B):c.292C>T (p.Pro98Ser)	PLA2G12B (P98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251793	NM_032562.5(PLA2G12B):c.262T>C (p.Cys88Arg)	PLA2G12B (C88R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214057	NM_032562.5(PLA2G12B):c.83A>G (p.Glu28Gly)	PLA2G12B (E28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375354	NM_032562.5(PLA2G12B):c.72C>G (p.Ser24Arg)	PLA2G12B (S24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214056	NM_032562.5(PLA2G12B):c.68C>T (p.Thr23Met)	PLA2G12B (T23M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	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)	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 1527591	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588)	DNAJC9, ECD +6 more	Copy number gain	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 1341265	GRCh37/hg19 10q22.1(chr10:74573522-74852531)x3	MCU, OIT3 +2 more	Copy number gain	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 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: 28