NEURL1[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 3299360	NM_004210.5(NEURL1):c.41G>A (p.Gly14Glu)	NEURL1, NEURL1-AS1 (G14E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299356	NM_004210.5(NEURL1):c.55G>T (p.Ala19Ser)	NEURL1, NEURL1-AS1 (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240165	NM_004210.5(NEURL1):c.145T>C (p.Cys49Arg)	NEURL1 (C49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194780	NM_004210.5(NEURL1):c.146G>A (p.Cys49Tyr)	NEURL1 (C49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219051	NM_004210.5(NEURL1):c.167G>T (p.Gly56Val)	NEURL1 (G56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591472	NM_004210.5(NEURL1):c.202C>T (p.His68Tyr)	NEURL1 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194796	NM_004210.5(NEURL1):c.244G>T (p.Ala82Ser)	NEURL1 (A82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640808	NM_004210.5(NEURL1):c.354C>T (p.Ser118=)	NEURL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509920	NM_004210.5(NEURL1):c.395G>A (p.Arg132His)	NEURL1 (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473585	NM_004210.5(NEURL1):c.482T>G (p.Phe161Cys)	NEURL1 (F161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594175	NM_004210.5(NEURL1):c.488A>G (p.Asn163Ser)	NEURL1 (N163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515912	NM_004210.5(NEURL1):c.505G>T (p.Ala169Ser)	NEURL1 (A169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194811	NM_004210.5(NEURL1):c.559G>A (p.Val187Ile)	NEURL1 (V187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257904	NM_004210.5(NEURL1):c.587C>T (p.Thr196Met)	NEURL1 (T196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194818	NM_004210.5(NEURL1):c.631C>T (p.Arg211Trp)	NEURL1 (R211W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194822	NM_004210.5(NEURL1):c.637G>A (p.Val213Ile)	NEURL1 (V213I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299359	NM_004210.5(NEURL1):c.650A>G (p.Asp217Gly)	NEURL1 (D217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316532	NM_004210.5(NEURL1):c.725A>C (p.Glu242Ala)	NEURL1 (E242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374145	NM_004210.5(NEURL1):c.790G>C (p.Glu264Gln)	NEURL1 (E264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331123	NM_004210.5(NEURL1):c.836A>T (p.Asn279Ile)	NEURL1 (N279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408164	NM_004210.5(NEURL1):c.842A>G (p.Gln281Arg)	NEURL1 (Q281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640809	NM_004210.5(NEURL1):c.858G>A (p.Leu286=)	NEURL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288577	NM_004210.5(NEURL1):c.860C>T (p.Pro287Leu)	NEURL1 (P287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494507	NM_004210.5(NEURL1):c.869T>C (p.Leu290Pro)	NEURL1 (L290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486558	NM_004210.5(NEURL1):c.872A>G (p.Asp291Gly)	NEURL1 (D291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332046	NM_004210.5(NEURL1):c.874G>C (p.Gly292Arg)	NEURL1 (G292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228952	NM_004210.5(NEURL1):c.878A>C (p.Asp293Ala)	NEURL1 (D293A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514268	NM_004210.5(NEURL1):c.888C>G (p.Phe296Leu)	NEURL1 (F296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401317	NM_004210.5(NEURL1):c.911A>C (p.His304Pro)	NEURL1 (H304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194852	NM_004210.5(NEURL1):c.938T>C (p.Val313Ala)	NEURL1 (V313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194855	NM_004210.5(NEURL1):c.962A>G (p.Asp321Gly)	NEURL1 (D321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523105	NM_004210.5(NEURL1):c.979T>C (p.Phe327Leu)	NEURL1 (F327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332444	NM_004210.5(NEURL1):c.991C>G (p.Pro331Ala)	NEURL1 (P331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305425	NM_004210.5(NEURL1):c.994G>A (p.Val332Met)	NEURL1 (V332M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619099	NM_004210.5(NEURL1):c.1087G>A (p.Gly363Ser)	NEURL1 (G363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615803	NM_004210.5(NEURL1):c.1091C>T (p.Thr364Met)	NEURL1 (T364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327233	NM_004210.5(NEURL1):c.1099C>T (p.Pro367Ser)	NEURL1 (P367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194753	NM_004210.5(NEURL1):c.1136A>G (p.Asp379Gly)	NEURL1 (D379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299357	NM_004210.5(NEURL1):c.1159T>G (p.Cys387Gly)	NEURL1 (C387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640810	NM_004210.5(NEURL1):c.1254C>A (p.Ala418=)	NEURL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3194754	NM_004210.5(NEURL1):c.1357G>A (p.Glu453Lys)	NEURL1 (E453K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362055	NM_004210.5(NEURL1):c.1360C>T (p.Arg454Trp)	NEURL1 (R454W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194759	NM_004210.5(NEURL1):c.1406C>T (p.Ser469Leu)	NEURL1 (S469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588832	NM_004210.5(NEURL1):c.1414G>A (p.Ala472Thr)	NEURL1 (A472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194769	NM_004210.5(NEURL1):c.1426C>T (p.Arg476Cys)	NEURL1 (R476C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396346	NM_004210.5(NEURL1):c.1438C>T (p.Pro480Ser)	NEURL1 (P480S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594164	NM_004210.5(NEURL1):c.1451C>T (p.Thr484Met)	NEURL1 (T484M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194776	NM_004210.5(NEURL1):c.1454G>A (p.Cys485Tyr)	NEURL1 (C485Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194786	NM_004210.5(NEURL1):c.1523C>T (p.Ser508Leu)	NEURL1 (S508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623471	NM_004210.5(NEURL1):c.1535C>G (p.Pro512Arg)	NEURL1 (P512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527600	GRCh37/hg19 10q24.33(chr10:105064606-105508469)	ATP5MK, CALHM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 979289	GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)x3	CALHM1, SH3PXD2A +9 more	Copy number gain	not provided	GUncertain significance
Select item 688068	GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3	ATP5MK, CALHM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394507	GRCh37/hg19 10q24.32-24.33(chr10:104853173-105357653)x4	ATP5MK, CALHM1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 75