LIPM[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3119098	NM_001128215.1(LIPM):c.54G>C (p.Trp18Cys)	LIPM (W18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119097	NM_001128215.1(LIPM):c.158T>C (p.Ile53Thr)	LIPM (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618272	NM_001128215.1(LIPM):c.217C>T (p.Leu73Phe)	LIPM (L73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475459	NM_001128215.1(LIPM):c.508T>C (p.Phe170Leu)	LIPM (F170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209038	NM_001128215.1(LIPM):c.526G>A (p.Gly176Ser)	LIPM (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391374	NM_001128215.1(LIPM):c.542A>G (p.Tyr181Cys)	LIPM (Y181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528060	NM_001128215.1(LIPM):c.659A>G (p.His220Arg)	LIPM (H220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548128	NM_001128215.1(LIPM):c.671C>T (p.Pro224Leu)	LIPM (P224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119099	NM_001128215.1(LIPM):c.689T>C (p.Leu230Ser)	LIPM (L230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548624	NM_001128215.1(LIPM):c.701T>C (p.Met234Thr)	LIPM (M234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469451	NM_001128215.1(LIPM):c.863G>C (p.Arg288Pro)	LIPM (R288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119100	NM_001128215.1(LIPM):c.881C>G (p.Ala294Gly)	LIPM (A294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119101	NM_001128215.1(LIPM):c.944G>T (p.Gly315Val)	LIPM (G315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119102	NM_001128215.1(LIPM):c.952C>T (p.Arg318Trp)	LIPM (R318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119103	NM_001128215.1(LIPM):c.967G>C (p.Gly323Arg)	LIPM (G323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119096	NM_001128215.1(LIPM):c.1000C>G (p.Gln334Glu)	LIPM (Q334E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621064	NM_001128215.1(LIPM):c.1101G>A (p.Met367Ile)	ANKRD22, LIPM (M367I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458010	NM_001128215.1(LIPM):c.1250G>C (p.Gly417Ala)	ANKRD22, LIPM (G417A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377839	NM_001128215.1(LIPM):c.1253G>A (p.Arg418Gln)	ANKRD22, LIPM (R418Q)	Single nucleotide variant (3 prime UTR 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 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 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 832890	NC_000010.11:g.(?_88770845)_(89328078_?)del	ACTA2, ANKRD22 +9 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 831557	NC_000010.11:g.(?_87863161)_(88948936_?)del	LIPK, LIPM +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)	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
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

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Items: 41