LANCL2[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 545348	Single allele	CCT6A, CHCHD2 +95 more	Duplication	Autism	GLikely pathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 59597	GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3	CCT6A, CHCHD2 +93 more	Copy number gain	See cases	GUncertain significance
Select item 2553910	NM_018697.4(LANCL2):c.7G>A (p.Glu3Lys)	LANCL2 (E3K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455875	NM_018697.4(LANCL2):c.11C>T (p.Thr4Ile)	LANCL2 (T4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275647	NM_018697.4(LANCL2):c.86C>T (p.Pro29Leu)	LANCL2, LOC129998459 (P29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321230	NM_018697.4(LANCL2):c.92A>G (p.Tyr31Cys)	LANCL2, LOC129998459 (Y31C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254175	NM_018697.4(LANCL2):c.103G>C (p.Ala35Pro)	LANCL2, LOC129998459 (A35P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496521	NM_018697.4(LANCL2):c.122C>T (p.Ser41Phe)	LANCL2, LOC129998459 (S41F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400449	NM_018697.4(LANCL2):c.131C>T (p.Ala44Val)	LANCL2, LOC129998459 (A44V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407714	NM_018697.4(LANCL2):c.190C>T (p.His64Tyr)	LANCL2, LOC129998459 (H64Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398816	NM_018697.4(LANCL2):c.192T>G (p.His64Gln)	LANCL2, LOC129998459 (H64Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302697	NM_018697.4(LANCL2):c.391G>T (p.Asp131Tyr)	LANCL2 (D131Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401861	NM_018697.4(LANCL2):c.397G>A (p.Val133Ile)	LANCL2 (V133I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611576	NM_018697.4(LANCL2):c.433G>T (p.Val145Phe)	LANCL2 (V145F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372999	NM_018697.4(LANCL2):c.548G>T (p.Arg183Ile)	LANCL2 (R183I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318734	NM_018697.4(LANCL2):c.563A>G (p.Gln188Arg)	LANCL2 (Q188R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2282035	NM_018697.4(LANCL2):c.655G>A (p.Val219Met)	LANCL2 (V219M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258623	NM_018697.4(LANCL2):c.830C>T (p.Ala277Val)	LANCL2 (A277V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611283	NM_018697.4(LANCL2):c.905G>A (p.Arg302Gln)	LANCL2 (R302Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781899	NM_018697.4(LANCL2):c.924A>G (p.Ser308=)	LANCL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2383208	NM_018697.4(LANCL2):c.935A>G (p.Asn312Ser)	LANCL2 (N312S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300345	NM_018697.4(LANCL2):c.1081C>T (p.Arg361Trp)	LANCL2 (R361W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543721	NM_018697.4(LANCL2):c.1168C>T (p.Leu390Phe)	LANCL2 (L390F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224153	NM_018697.4(LANCL2):c.1175G>A (p.Arg392Gln)	LANCL2 (R392Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362882	NM_018697.4(LANCL2):c.1219G>A (p.Gly407Arg)	LANCL2 (G407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562108	NM_018697.4(LANCL2):c.1270G>A (p.Ala424Thr)	LANCL2 (A424T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527374	NM_018697.4(LANCL2):c.1313G>A (p.Arg438Gln)	LANCL2 (R438Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +12 more	Copy number gain	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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685442	GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1	CCT6A, CHCHD2 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395009	GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1	CCT6A, CHCHD2 +10 more	Copy number loss	See cases	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: 44