LRRC17[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 148748	GRCh38/hg38 7q22.1(chr7:102692380-103350914)x3	ARMC10, DNAJC2 +19 more	Copy number gain	See cases	GLikely benign
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2243258	NM_001394494.2(FBXL13):c.1150C>A (p.His384Asn)	FBXL13, LRRC17 (H294N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232588	NM_001394494.2(FBXL13):c.1123A>C (p.Asn375His)	FBXL13, LRRC17 (N285H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607830	NM_001394494.2(FBXL13):c.1087G>A (p.Val363Ile)	FBXL13, LRRC17 (V273I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591958	NM_001394494.2(FBXL13):c.1082C>T (p.Pro361Leu)	FBXL13, LRRC17 (P271L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337507	NM_001031692.3(LRRC17):c.70G>T (p.Gly24Cys)	FBXL13, LRRC17 (G24C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242073	NM_001031692.3(LRRC17):c.107G>A (p.Gly36Asp)	FBXL13, LRRC17 (G36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120424	NM_001031692.3(LRRC17):c.112G>A (p.Gly38Ser)	FBXL13, LRRC17 (G38S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291508	NM_001031692.3(LRRC17):c.121G>C (p.Gly41Arg)	FBXL13, LRRC17 (G41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120425	NM_001031692.3(LRRC17):c.181C>T (p.His61Tyr)	FBXL13, LRRC17 (H61Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333177	NM_001031692.3(LRRC17):c.341A>G (p.Gln114Arg)	FBXL13, LRRC17 (Q114R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3120427	NM_001031692.3(LRRC17):c.476G>A (p.Arg159His)	FBXL13, LRRC17 (R159H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120428	NM_001031692.3(LRRC17):c.498C>G (p.His166Gln)	FBXL13, LRRC17 (H166Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120429	NM_001031692.3(LRRC17):c.610C>G (p.Arg204Gly)	FBXL13, LRRC17 (R204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463655	NM_001031692.3(LRRC17):c.610C>T (p.Arg204Trp)	FBXL13, LRRC17 (R204W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385122	NM_001031692.3(LRRC17):c.611G>A (p.Arg204Gln)	FBXL13, LRRC17 (R204Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362733	NM_001031692.3(LRRC17):c.683G>A (p.Gly228Glu)	FBXL13, LRRC17 (G228E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485858	NM_001031692.3(LRRC17):c.689C>G (p.Pro230Arg)	FBXL13, LRRC17 (P230R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233541	NM_001031692.3(LRRC17):c.689C>T (p.Pro230Leu)	FBXL13, LRRC17 (P230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221467	NM_001031692.3(LRRC17):c.796A>T (p.Ile266Phe)	FBXL13, LRRC17 (I266F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605804	NM_001031692.3(LRRC17):c.842A>C (p.Asn281Thr)	FBXL13, LRRC17 (N281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291507	NM_001031692.3(LRRC17):c.931G>A (p.Ala311Thr)	FBXL13, LRRC17 (A311T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239179	NM_001031692.3(LRRC17):c.1130A>C (p.Glu377Ala)	FBXL13, LRRC17 (E377A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316247	NM_001031692.3(LRRC17):c.1169G>A (p.Gly390Glu)	FBXL13, LRRC17 (G390E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291509	NM_001031692.3(LRRC17):c.1220C>T (p.Ala407Val)	FBXL13, LRRC17 (A407V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254867	NM_001031692.3(LRRC17):c.1316T>A (p.Ile439Lys)	FBXL13, LRRC17 (I439K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685259	GRCh37/hg19 7q22.1(chr7:102138955-102744237)x1	NFE4, POLR2J2 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 815012	GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3	ARMC10, NFE4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686718	GRCh37/hg19 7q22.1(chr7:102333119-103158261)x3	ARMC10, DNAJC2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 45