ClinVar for Gene (Select 84708) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119492	NM_001126328.3(LNX1):c.841G>C (p.Asp281His)	LNX1 (D185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119491	NM_001126328.3(LNX1):c.673A>T (p.Asn225Tyr)	LNX1, LNX1-AS1 (N129Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119490	NM_001126328.3(LNX1):c.646A>G (p.Ile216Val)	LNX1, LNX1-AS1 (I120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119489	NM_001126328.3(LNX1):c.625C>T (p.Arg209Trp)	LNX1, LNX1-AS1 (R209W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119488	NM_001126328.3(LNX1):c.2149A>T (p.Thr717Ser)	LNX1 (T621S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119487	NM_001126328.3(LNX1):c.1916T>C (p.Ile639Thr)	LNX1 (I543T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119486	NM_001126328.3(LNX1):c.1765G>A (p.Ala589Thr)	LNX1 (A589T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119484	NM_001126328.3(LNX1):c.1585A>G (p.Arg529Gly)	LNX1 (R529G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119483	NM_001126328.3(LNX1):c.1436G>A (p.Ser479Asn)	LNX1 (S479N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119482	NM_001126328.3(LNX1):c.1426G>A (p.Gly476Ser)	LNX1 (G476S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119481	NM_001126328.3(LNX1):c.1331G>A (p.Ser444Asn)	LNX1 (S444N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119480	NM_001126328.3(LNX1):c.1195C>T (p.Arg399Cys)	LNX1 (R399C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119479	NM_001126328.3(LNX1):c.1166C>T (p.Pro389Leu)	LNX1 (P293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119478	NM_001126328.3(LNX1):c.1118A>G (p.Tyr373Cys)	LNX1 (Y373C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119477	NM_001126328.3(LNX1):c.110A>G (p.Asp37Gly)	LNX1 (D37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119476	NM_001126328.3(LNX1):c.1069C>T (p.Arg357Cys)	LNX1 (R357C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095256	NM_030917.4(FIP1L1):c.1761C>G (p.Ser587Arg)	FIP1L1, LNX1 (S522R +42 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062751	GRCh37/hg19 4q12(chr4:54207767-54741991)x3	FIP1L1, LNX1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685968	GRCh37/hg19 4q12(chr4:54280346-55271175)x3	CHIC2, FIP1L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2617447	NM_001126328.3(LNX1):c.526G>A (p.Glu176Lys)	LNX1, LNX1-AS1 (E176K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591135	NM_030917.4(FIP1L1):c.1730C>T (p.Ala577Val)	FIP1L1, LNX1 (A501V +42 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2550006	NM_001126328.3(LNX1):c.1787A>G (p.Glu596Gly)	LNX1 (E500G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542153	NM_001126328.3(LNX1):c.1127G>A (p.Arg376Gln)	LNX1 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540251	NM_001126328.3(LNX1):c.2101A>C (p.Ile701Leu)	LNX1 (I701L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483390	NM_001126328.3(LNX1):c.1712G>A (p.Arg571Gln)	LNX1 (R475Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412562	NM_001126328.3(LNX1):c.300G>C (p.Lys100Asn)	LNX1 (K100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383076	NM_001126328.3(LNX1):c.236G>A (p.Arg79His)	LNX1 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382628	NM_001126328.3(LNX1):c.275T>A (p.Ile92Asn)	LNX1 (I92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364312	NM_001126328.3(LNX1):c.164C>T (p.Pro55Leu)	LNX1 (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356972	NM_001126328.3(LNX1):c.637A>G (p.Arg213Gly)	LNX1, LNX1-AS1 (R117G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356944	NM_001126328.3(LNX1):c.2158A>T (p.Ile720Phe)	LNX1 (I624F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349108	NM_001126328.3(LNX1):c.1208A>G (p.Glu403Gly)	LNX1 (E403G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327641	NM_001126328.3(LNX1):c.281T>A (p.Val94Asp)	LNX1 (V94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317636	NM_001126328.3(LNX1):c.773A>G (p.Glu258Gly)	LNX1, LNX1-AS1 (E162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307910	NM_001126328.3(LNX1):c.37C>G (p.Leu13Val)	LNX1 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300113	NM_001126328.3(LNX1):c.1186A>G (p.Lys396Glu)	LNX1 (K300E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291525	NM_001126328.3(LNX1):c.1117T>G (p.Tyr373Asp)	LNX1 (Y277D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255855	NM_001126328.3(LNX1):c.134T>C (p.Leu45Pro)	LNX1 (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253484	NM_001126328.3(LNX1):c.1540C>T (p.Pro514Ser)	LNX1 (P418S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243729	NM_001126328.3(LNX1):c.1964G>A (p.Gly655Glu)	LNX1 (G655E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229404	NM_001126328.3(LNX1):c.1315T>C (p.Tyr439His)	LNX1 (Y343H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215724	NM_001126328.3(LNX1):c.708C>G (p.Ser236Arg)	LNX1, LNX1-AS1 (S140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211414	NM_001126328.3(LNX1):c.836G>A (p.Arg279Gln)	LNX1 (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206821	NM_001126328.3(LNX1):c.280G>T (p.Val94Phe)	LNX1 (V94F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1808055	GRCh37/hg19 4q12(chr4:54228585-54361640)x1	FIP1L1, LNX1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1527088	GRCh37/hg19 4q12(chr4:54027934-54386267)	FIP1L1, LNX1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814552	GRCh37/hg19 4q12(chr4:53688710-54741991)x3	SCFD2, FIP1L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 619293	NM_001126328.3(LNX1):c.381-27505G>A	LNX1	Single nucleotide variant (intron variant)	Lip and oral cavity carcinoma	Gassociation not found
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66