ClinVar for Gene (Select 142910) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290829	NM_001010939.3(LIPJ):c.958G>A (p.Val320Ile)	LIPJ (V320I +1 more)	Single nucleotide variant (missense variant +1 more)	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 3155517	NM_001031709.3(RNLS):c.55C>G (p.Leu19Val)	LIPJ, RNLS (L19V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3119090	NM_001010939.3(LIPJ):c.43G>A (p.Glu15Lys)	LIPJ (E15K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119088	NM_001010939.3(LIPJ):c.265G>A (p.Gly89Arg)	LIPJ (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119087	NM_001010939.3(LIPJ):c.209G>A (p.Ser70Asn)	LIPJ (S70N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119086	NM_001010939.3(LIPJ):c.203A>G (p.Asn68Ser)	LIPJ (N68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119085	NM_001010939.3(LIPJ):c.116A>G (p.Asn39Ser)	LIPJ (N39S)	Single nucleotide variant (missense variant +1 more)	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 2799241	NM_001031709.3(RNLS):c.32T>G (p.Met11Arg)	LIPJ, RNLS (M11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 2594418	NM_001010939.3(LIPJ):c.667A>G (p.Ile223Val)	LIPJ (I223V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593083	NM_001010939.3(LIPJ):c.71G>A (p.Gly24Asp)	LIPJ (G24D)	Single nucleotide variant (missense variant +1 more)	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 2540415	NM_001010939.3(LIPJ):c.152T>G (p.Leu51Trp)	LIPJ (L51W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511898	NM_001010939.3(LIPJ):c.302C>T (p.Thr101Met)	LIPJ (T101M)	Single nucleotide variant (missense variant +1 more)	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 2373833	NM_001010939.3(LIPJ):c.614C>T (p.Ser205Leu)	LIPJ (S205L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298636	NM_001010939.3(LIPJ):c.632G>A (p.Gly211Asp)	LIPJ (G211D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268854	NM_001010939.3(LIPJ):c.427G>T (p.Gly143Cys)	LIPJ (G143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261626	NM_001010939.3(LIPJ):c.968T>C (p.Leu323Ser)	LIPJ (L274S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260809	NM_001010939.3(LIPJ):c.780G>T (p.Met260Ile)	LIPJ (M260I +1 more)	Single nucleotide variant (missense variant +1 more)	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 1318306	NC_000010.11:g.88583361G>A	LIPJ, RNLS	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1315945	NC_000010.11:g.88583495T>A	LIPJ, RNLS	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1250700	NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp)	LIPJ, LOC130004283 +1 more (E37D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1239848	NC_000010.11:g.88583641A>G	LIPJ, RNLS	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
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 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 523155	GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1	LOC130004269, LOC130004270 +23 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: 45