LRRC20[gene] - ClinVar

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Items: 37

	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 57436	GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3	AIFM2, EIF4EBP2 +37 more	Copy number gain	See cases	GUncertain significance
Select item 3120451	NM_001278212.2(LRRC20):c.547C>A (p.Leu183Ile)	LRRC20 (L114I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120450	NM_001278212.2(LRRC20):c.542C>T (p.Ala181Val)	LRRC20 (A125V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218683	NM_001278212.2(LRRC20):c.541G>A (p.Ala181Thr)	LRRC20 (A125T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409895	NM_001278212.2(LRRC20):c.497C>T (p.Pro166Leu)	LRRC20 (P110L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324155	NM_001278212.2(LRRC20):c.494C>T (p.Pro165Leu)	LRRC20 (P115L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252642	NM_001278212.2(LRRC20):c.490G>A (p.Ala164Thr)	LRRC20 (A114T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227374	NM_001278212.2(LRRC20):c.481C>T (p.Arg161Cys)	LRRC20 (R105C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120449	NM_001278212.2(LRRC20):c.472G>A (p.Ala158Thr)	LRRC20 (A158T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120448	NM_001278212.2(LRRC20):c.455G>A (p.Arg152His)	LRRC20 (R152H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564027	NM_001278212.2(LRRC20):c.454C>T (p.Arg152Cys)	LRRC20 (R102C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511701	NM_001278212.2(LRRC20):c.409G>A (p.Val137Met)	LRRC20 (V137M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120447	NM_001278212.2(LRRC20):c.391G>A (p.Glu131Lys)	LRRC20 (E131K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484659	NM_001278212.2(LRRC20):c.365T>C (p.Leu122Pro)	LRRC20 (L72P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120446	NM_001278212.2(LRRC20):c.336C>G (p.Phe112Leu)	LRRC20 (F112L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508963	NM_001278212.2(LRRC20):c.259C>T (p.His87Tyr)	LRRC20 (H37Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558266	NM_001278212.2(LRRC20):c.235C>A (p.Leu79Ile)	LRRC20 (L10I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120445	NM_001278212.2(LRRC20):c.230G>A (p.Arg77Gln)	LRRC20 (R77Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2213584	NM_001278212.2(LRRC20):c.220A>C (p.Ser74Arg)	LRRC20 (S5R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3120452	NM_001278212.2(LRRC20):c.91G>A (p.Glu31Lys)	LRRC20 (E31K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2331616	NM_001278212.2(LRRC20):c.56C>T (p.Thr19Met)	LRRC20 (T19M)	Single nucleotide variant (missense variant +1 more)	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 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1340135	GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3	AIFM2, EIF4EBP2 +9 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
Select item 393751	GRCh37/hg19 10q22.1(chr10:72015430-72063177)x3	LRRC20, NPFFR1	Copy number gain	See cases	GLikely benign

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Items: 37