LVRN[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 2522883	NM_173800.5(LVRN):c.11C>A (p.Pro4His)	LVRN (P4H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121606	NM_173800.5(LVRN):c.37C>T (p.Arg13Cys)	LVRN (R13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483926	NM_173800.5(LVRN):c.37C>G (p.Arg13Gly)	LVRN (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121597	NM_173800.5(LVRN):c.103G>A (p.Ala35Thr)	LOC129994406, LVRN (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613088	NM_173800.5(LVRN):c.179C>A (p.Pro60His)	LOC129994406, LVRN (P60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291696	NM_173800.5(LVRN):c.182C>G (p.Pro61Arg)	LOC129994406, LVRN (P61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388248	NM_173800.5(LVRN):c.229G>C (p.Glu77Gln)	LOC129994406, LVRN (E77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121605	NM_173800.5(LVRN):c.266C>A (p.Pro89His)	LOC129994406, LVRN (P89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278169	NM_173800.5(LVRN):c.364G>C (p.Ala122Pro)	LVRN (A122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223590	NM_173800.5(LVRN):c.376C>T (p.Pro126Ser)	LVRN (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121607	NM_173800.5(LVRN):c.385G>T (p.Gly129Cys)	LVRN (G129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411304	NM_173800.5(LVRN):c.400A>G (p.Thr134Ala)	LVRN (T134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655650	NM_173800.5(LVRN):c.525C>G (p.Pro175=)	LVRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261433	NM_173800.5(LVRN):c.547C>G (p.Leu183Val)	LVRN (L183V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339555	NM_173800.5(LVRN):c.558A>T (p.Glu186Asp)	LVRN (E186D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275429	NM_173800.5(LVRN):c.559T>C (p.Tyr187His)	LVRN (Y187H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550229	NM_173800.5(LVRN):c.605A>G (p.Tyr202Cys)	LVRN (Y202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261434	NM_173800.5(LVRN):c.608A>T (p.Glu203Val)	LVRN (E203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121608	NM_173800.5(LVRN):c.651G>C (p.Arg217Ser)	LVRN (R217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366915	NM_173800.5(LVRN):c.757G>A (p.Glu253Lys)	LVRN (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223853	NM_173800.5(LVRN):c.811G>C (p.Val271Leu)	LVRN (V271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461586	NM_173800.5(LVRN):c.899C>T (p.Thr300Met)	LVRN (T300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121609	NM_173800.5(LVRN):c.928T>C (p.Phe310Leu)	LVRN (F310L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360863	NM_173800.5(LVRN):c.949C>T (p.His317Tyr)	LVRN (H317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480378	NM_173800.5(LVRN):c.995G>A (p.Arg332Gln)	LVRN (R332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121596	NM_173800.5(LVRN):c.1021G>A (p.Ala341Thr)	LVRN (A341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328896	NM_173800.5(LVRN):c.1051A>G (p.Ile351Val)	LVRN (I351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253110	NM_173800.5(LVRN):c.1064T>C (p.Leu355Pro)	LVRN (L355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121599	NM_173800.5(LVRN):c.1162A>G (p.Ile388Val)	LVRN (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595448	NM_173800.5(LVRN):c.1265T>C (p.Phe422Ser)	LVRN (F422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121600	NM_173800.5(LVRN):c.1287T>A (p.Asn429Lys)	LVRN (N429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121601	NM_173800.5(LVRN):c.1427C>A (p.Ala476Asp)	LVRN (A476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619741	NM_173800.5(LVRN):c.1436C>G (p.Thr479Ser)	LVRN (T479S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 776060	NM_173800.5(LVRN):c.1521G>A (p.Ala507=)	LVRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3121602	NM_173800.5(LVRN):c.1753A>T (p.Thr585Ser)	LVRN (T585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346936	NM_173800.5(LVRN):c.1798A>G (p.Asn600Asp)	LVRN (N600D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548988	NM_173800.5(LVRN):c.1828T>C (p.Trp610Arg)	LVRN (W610R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475151	NM_173800.5(LVRN):c.1950G>C (p.Leu650Phe)	LVRN (L650F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269799	NM_173800.5(LVRN):c.2057G>A (p.Arg686Lys)	LVRN (R686K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655651	NM_173800.5(LVRN):c.2229T>C (p.Asp743=)	LVRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459177	NM_173800.5(LVRN):c.2371G>A (p.Ala791Thr)	LVRN (A791T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213642	NM_173800.5(LVRN):c.2438A>G (p.His813Arg)	LVRN (H813R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606112	NM_173800.5(LVRN):c.2446A>G (p.Asn816Asp)	LVRN (N816D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787039	NM_173800.5(LVRN):c.2514G>A (p.Glu838=)	LVRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2540135	NM_173800.5(LVRN):c.2533A>G (p.Thr845Ala)	LVRN (T845A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121604	NM_173800.5(LVRN):c.2581G>A (p.Ala861Thr)	LVRN (A861T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204322	NM_173800.5(LVRN):c.2645C>G (p.Ser882Cys)	LVRN (S882C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598485	NM_173800.5(LVRN):c.2690C>T (p.Ser897Leu)	LVRN (S897L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398946	NM_173800.5(LVRN):c.2705G>A (p.Arg902Gln)	LVRN (R902Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778868	NM_173800.5(LVRN):c.2806G>A (p.Val936Ile)	LVRN (V936I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527186	GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	AP3S1, APC +21 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CDC25C, CDC42SE2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 76