LNX2[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145957	GRCh38/hg38 13q12.13-12.3(chr13:26965244-30097858)x3	CDX2, FLT1 +123 more	Copy number gain	See cases	GLikely pathogenic
Select item 3119499	NM_153371.4(LNX2):c.2002G>A (p.Val668Ile)	LNX2 (V668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473486	NM_153371.4(LNX2):c.1999C>G (p.Leu667Val)	LNX2 (L667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589495	NM_153371.4(LNX2):c.1988G>A (p.Ser663Asn)	LNX2 (S663N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119498	NM_153371.4(LNX2):c.1985T>G (p.Met662Arg)	LNX2 (M662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540203	NM_153371.4(LNX2):c.1927G>A (p.Gly643Arg)	LNX2 (G643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334098	NM_153371.4(LNX2):c.1837T>C (p.Phe613Leu)	LNX2 (F613L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291047	NM_153371.4(LNX2):c.1759A>G (p.Met587Val)	LNX2 (M587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119496	NM_153371.4(LNX2):c.1734T>G (p.Asp578Glu)	LNX2 (D578E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291046	NM_153371.4(LNX2):c.1631C>T (p.Ala544Val)	LNX2 (A544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528818	NM_153371.4(LNX2):c.1543A>G (p.Arg515Gly)	LNX2 (R515G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291051	NM_153371.4(LNX2):c.1510C>T (p.His504Tyr)	LNX2 (H504Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776786	NM_153371.4(LNX2):c.1446C>T (p.Thr482=)	LNX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523310	NM_153371.4(LNX2):c.1439G>A (p.Gly480Asp)	LNX2 (G480D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454384	NM_153371.4(LNX2):c.1363C>T (p.His455Tyr)	LNX2 (H455Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291049	NM_153371.4(LNX2):c.1313G>T (p.Ser438Ile)	LNX2 (S438I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458441	NM_153371.4(LNX2):c.1289T>C (p.Ile430Thr)	LNX2 (I430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535683	NM_153371.4(LNX2):c.1250C>T (p.Thr417Ile)	LNX2 (T417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611694	NM_153371.4(LNX2):c.1249A>G (p.Thr417Ala)	LNX2 (T417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314085	NM_153371.4(LNX2):c.1223A>G (p.Gln408Arg)	LNX2 (Q408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402417	NM_153371.4(LNX2):c.1179C>A (p.His393Gln)	LNX2 (H393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315524	NM_153371.4(LNX2):c.1165G>A (p.Ala389Thr)	LNX2 (A389T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119495	NM_153371.4(LNX2):c.1151A>G (p.Asn384Ser)	LNX2 (N384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119494	NM_153371.4(LNX2):c.1141C>G (p.Leu381Val)	LNX2 (L381V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227594	NM_153371.4(LNX2):c.1114G>T (p.Gly372Trp)	LNX2 (G372W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335040	NM_153371.4(LNX2):c.1080T>G (p.Asp360Glu)	LNX2 (D360E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476054	NM_153371.4(LNX2):c.959T>G (p.Phe320Cys)	LNX2 (F320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261542	NM_153371.4(LNX2):c.956G>A (p.Arg319His)	LNX2 (R319H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119506	NM_153371.4(LNX2):c.913C>G (p.Gln305Glu)	LNX2 (Q305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119505	NM_153371.4(LNX2):c.878A>G (p.Asn293Ser)	LNX2 (N293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119504	NM_153371.4(LNX2):c.803A>G (p.Asp268Gly)	LNX2 (D268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119503	NM_153371.4(LNX2):c.698C>T (p.Thr233Met)	LNX2 (T233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205088	NM_153371.4(LNX2):c.656C>T (p.Thr219Ile)	LNX2 (T219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526920	NM_153371.4(LNX2):c.617T>G (p.Leu206Arg)	LNX2 (L206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304211	NM_153371.4(LNX2):c.613G>A (p.Gly205Ser)	LNX2 (G205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291045	NM_153371.4(LNX2):c.610C>T (p.Pro204Ser)	LNX2 (P204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119502	NM_153371.4(LNX2):c.589C>T (p.Leu197Phe)	LNX2 (L197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341368	NM_153371.4(LNX2):c.587C>T (p.Ser196Phe)	LNX2 (S196F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367956	NM_153371.4(LNX2):c.541T>G (p.Leu181Val)	LNX2 (L181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342860	NM_153371.4(LNX2):c.509C>T (p.Pro170Leu)	LNX2 (P170L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321615	NM_153371.4(LNX2):c.475A>G (p.Ile159Val)	LNX2 (I159V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291050	NM_153371.4(LNX2):c.428G>A (p.Arg143Gln)	LNX2 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119501	NM_153371.4(LNX2):c.408A>G (p.Arg136=)	LNX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3291048	NM_153371.4(LNX2):c.334G>C (p.Val112Leu)	LNX2 (V112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385392	NM_153371.4(LNX2):c.262C>T (p.Arg88Trp)	LNX2 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119500	NM_153371.4(LNX2):c.236A>G (p.Gln79Arg)	LNX2 (Q79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478061	NM_153371.4(LNX2):c.224G>A (p.Arg75Lys)	LNX2 (R75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119497	NM_153371.4(LNX2):c.188C>T (p.Thr63Ile)	LNX2 (T63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119493	NM_153371.4(LNX2):c.10A>G (p.Thr4Ala)	LNX2 (T4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244219	NC_000013.10:g.(?_27827914)_(29252239_?)dup	CDX2, FLT1 +13 more	Duplication	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 2684695	GRCh37/hg19 13q12.2(chr13:27847281-28473992)x3	GSX1, GTF3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809435	GRCh37/hg19 13q12.2(chr13:28063413-28185279)x1	LNX2	Copy number loss	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 815578	GRCh37/hg19 13q12.2(chr13:28159780-28289790)x1	POLR1D, LNX2	Copy number loss	not provided	GPathogenic
Select item 815577	GRCh37/hg19 13q12.2(chr13:28083408-28591050)x3	GSX1, LNX2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 563999	GRCh37/hg19 13q12.2(chr13:28147818-28258950)x1	POLR1D, LNX2	Copy number loss	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	CDK8, CDX2 +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443090	GRCh37/hg19 13q12.2-12.3(chr13:28152002-29117192)x3	CDX2, FLT1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253868	GRCh37/hg19 13q12.2(chr13:28122430-28255931)x3	POLR1D, LNX2	Copy number gain	See cases	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 89