ClinVar for Gene (Select 643414) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290831	NM_001080518.2(LIPK):c.320C>T (p.Ala107Val)	LIPK (A107V)	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 3119095	NM_001080518.2(LIPK):c.827A>T (p.Asp276Val)	LIPK (D243V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119093	NM_001080518.2(LIPK):c.511C>A (p.His171Asn)	LIPK (H171N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119091	NM_001080518.2(LIPK):c.1180G>A (p.Glu394Lys)	LIPK (E361K +1 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 3043954	NM_001080518.2(LIPK):c.107G>A (p.Ser36Asn)	LIPK (S36N)	Single nucleotide variant (missense variant)	LIPK-related disorder	GLikely benign
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 2591887	NM_001080518.2(LIPK):c.965C>G (p.Thr322Arg)	LIPK (T289R +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 2564958	NM_001080518.2(LIPK):c.631A>G (p.Met211Val)	LIPK (M178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457565	NM_001080518.2(LIPK):c.351C>A (p.Asn117Lys)	LIPK (N117K +1 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 2401621	NM_001080518.2(LIPK):c.758G>A (p.Arg253His)	LIPK (R220H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387070	NM_001080518.2(LIPK):c.803A>C (p.Gln268Pro)	LIPK (Q235P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369988	NM_001080518.2(LIPK):c.872T>G (p.Met291Arg)	LIPK (M258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359671	NM_001080518.2(LIPK):c.632T>C (p.Met211Thr)	LIPK (M178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350654	NM_001080518.2(LIPK):c.11T>C (p.Leu4Pro)	LIPK (L4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337388	NM_001080518.2(LIPK):c.56G>A (p.Gly19Asp)	LIPK (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334419	NM_001080518.2(LIPK):c.445G>A (p.Asp149Asn)	LIPK (D149N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328298	NM_001080518.2(LIPK):c.469A>T (p.Ile157Phe)	LIPK (I124F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266564	NM_001080518.2(LIPK):c.1091A>G (p.Tyr364Cys)	LIPK (Y364C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253975	NM_001080518.2(LIPK):c.953T>G (p.Phe318Cys)	LIPK (F285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235063	NM_001080518.2(LIPK):c.892G>T (p.Val298Phe)	LIPK (V265F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234334	NM_001080518.2(LIPK):c.1112A>G (p.Asn371Ser)	LIPK (N338S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231588	NM_001080518.2(LIPK):c.837G>T (p.Leu279Phe)	LIPK (L246F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231024	NM_001080518.2(LIPK):c.833A>T (p.Tyr278Phe)	LIPK (Y245F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228854	NM_001080518.2(LIPK):c.91G>A (p.Ala31Thr)	LIPK (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223824	NM_001080518.2(LIPK):c.472A>G (p.Ile158Val)	LIPK (I125V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223010	NM_001080518.2(LIPK):c.77A>G (p.Asn26Ser)	LIPK (N26S)	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 685475	GRCh37/hg19 10q23.31(chr10:90510448-91086868)x1	ACTA2, ANKRD22 +9 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 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: 49