ClinVar for Gene (Select 8513) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290817	NM_004190.4(LIPF):c.962C>T (p.Ser321Phe)	LIPF (S288F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3119067	NM_004190.4(LIPF):c.53A>G (p.His18Arg)	LIPF (H18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119066	NM_004190.4(LIPF):c.635A>G (p.Asn212Ser)	LIPF (N189S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119065	NM_004190.4(LIPF):c.561C>A (p.Ser187Arg)	LIPF (S154R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119064	NM_004190.4(LIPF):c.530T>C (p.Ile177Thr)	LIPF (I177T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119063	NM_004190.4(LIPF):c.404T>C (p.Val135Ala)	LIPF (V102A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119062	NM_004190.4(LIPF):c.389A>G (p.Tyr130Cys)	LIPF (Y107C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119061	NM_004190.4(LIPF):c.1027G>A (p.Asp343Asn)	LIPF (D310N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 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 2623083	NM_004190.4(LIPF):c.804G>T (p.Lys268Asn)	LIPF (K235N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594984	NM_004190.4(LIPF):c.55G>T (p.Gly19Cys)	LIPF (G29C +1 more)	Single nucleotide variant (missense variant)	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 2556245	NM_004190.4(LIPF):c.1010T>A (p.Val337Glu)	LIPF (V304E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536367	NM_004190.4(LIPF):c.89A>T (p.Glu30Val)	LIPF (E40V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486237	NM_004190.4(LIPF):c.889G>T (p.Ala297Ser)	LIPF (A297S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422866	NC_000010.10:g.(?_89514444)_(90537999_?)del	ATAD1, KLLN +6 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2409223	NM_004190.4(LIPF):c.452C>T (p.Pro151Leu)	LIPF (P161L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334602	NM_004190.4(LIPF):c.863T>C (p.Val288Ala)	LIPF (V298A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323884	NM_004190.4(LIPF):c.499C>T (p.His167Tyr)	LIPF (H144Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314918	NM_004190.4(LIPF):c.1114C>G (p.His372Asp)	LIPF (H349D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247752	NM_004190.4(LIPF):c.1108T>G (p.Tyr370Asp)	LIPF (Y380D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231496	NM_004190.4(LIPF):c.827A>T (p.Asp276Val)	LIPF (D286V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223823	NM_004190.4(LIPF):c.1004T>C (p.Ile335Thr)	LIPF (I302T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 979282	GRCh37/hg19 10q23.31(chr10:90122675-90771228)x3	ACTA2, ANKRD22 +9 more	Copy number gain	not provided	GUncertain significance
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 832889	NC_000010.11:g.(?_87552082)_(88768928_?)del	ATAD1, KLLN +8 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 831557	NC_000010.11:g.(?_87863161)_(88948936_?)del	LIPF, ACTA2 +9 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 714515	NM_004190.4(LIPF):c.821G>A (p.Arg274His)	LIPF (R251H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	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)	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 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 57094	GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3	ACTA2, ACTA2-AS1 +21 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 44