MCUR1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995714, LOC129995715 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	LOC129389446, LOC129389447 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ELOVL2-AS1, ERVFRD-1 +154 more	Copy number loss	See cases	GPathogenic
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 2321849	NM_001031713.4(MCUR1):c.925C>T (p.Arg309Trp)	MCUR1 (R309W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124529	NM_001031713.4(MCUR1):c.760C>T (p.His254Tyr)	MCUR1 (H254Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493269	NM_001031713.4(MCUR1):c.710G>C (p.Ser237Thr)	MCUR1 (S237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124528	NM_001031713.4(MCUR1):c.688G>A (p.Asp230Asn)	MCUR1 (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124527	NM_001031713.4(MCUR1):c.674C>T (p.Ala225Val)	MCUR1 (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262936	NM_001031713.4(MCUR1):c.655C>G (p.Gln219Glu)	MCUR1 (Q219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542441	NM_001031713.4(MCUR1):c.620T>C (p.Met207Thr)	MCUR1 (M207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525911	NM_001031713.4(MCUR1):c.601G>A (p.Asp201Asn)	MCUR1 (D201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597207	NM_001031713.4(MCUR1):c.499G>A (p.Asp167Asn)	MCUR1 (D167N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768065	NM_001031713.4(MCUR1):c.498C>T (p.Phe166=)	MCUR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2293349	NM_001031713.4(MCUR1):c.454A>G (p.Lys152Glu)	MCUR1 (K152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387933	NM_001031713.4(MCUR1):c.386C>T (p.Pro129Leu)	LOC129995831, MCUR1 (P129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124526	NM_001031713.4(MCUR1):c.344G>C (p.Gly115Ala)	LOC129995831, MCUR1 (G115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617616	NM_001031713.4(MCUR1):c.341C>G (p.Pro114Arg)	LOC129995831, MCUR1 (P114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465456	NM_001031713.4(MCUR1):c.337T>A (p.Ser113Thr)	LOC129995831, MCUR1 (S113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124525	NM_001031713.4(MCUR1):c.325G>A (p.Ala109Thr)	LOC129995831, MCUR1 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465944	NM_001031713.4(MCUR1):c.289C>T (p.Leu97Phe)	LOC129995831, MCUR1 (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124523	NM_001031713.4(MCUR1):c.169C>A (p.Pro57Thr)	LOC129995831, MCUR1 (P57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124522	NM_001031713.4(MCUR1):c.134T>C (p.Leu45Pro)	LOC129995831, MCUR1 (L45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345890	NM_001031713.4(MCUR1):c.133C>G (p.Leu45Val)	LOC129995831, MCUR1 (L45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226004	NM_001031713.4(MCUR1):c.115C>G (p.Arg39Gly)	LOC129995831, MCUR1 (R39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124530	NM_001031713.4(MCUR1):c.97G>A (p.Gly33Ser)	LOC129995831, MCUR1 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223248	NM_001031713.4(MCUR1):c.95G>A (p.Gly32Asp)	LOC129995831, MCUR1 (G32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590720	NM_001031713.4(MCUR1):c.92C>G (p.Pro31Arg)	LOC129995831, MCUR1 (P31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591730	NM_001031713.4(MCUR1):c.53A>G (p.Gln18Arg)	LOC129995831, MCUR1 (Q18R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124524	NM_001031713.4(MCUR1):c.29G>A (p.Arg10Lys)	LOC129995831, MCUR1 (R10K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 2685195	GRCh37/hg19 6p23(chr6:13779454-13842258)x1	MCUR1	Copy number loss	not provided	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 814790	GRCh37/hg19 6p23(chr6:13762933-13813301)x1	MCUR1	Copy number loss	not provided	GUncertain significance
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 54