MRI1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 720597	NM_001031727.4(MRI1):c.19C>T (p.Arg7Cys)	MRI1 (R7C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2306914	NM_001031727.4(MRI1):c.32G>A (p.Gly11Asp)	MRI1 (G11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295869	NM_001031727.4(MRI1):c.68A>G (p.Lys23Arg)	MRI1 (K23R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562048	NM_001031727.4(MRI1):c.77G>A (p.Arg26His)	MRI1 (R26H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295871	NM_001031727.4(MRI1):c.118A>G (p.Ile40Val)	MRI1 (I40V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2007650	NM_001031727.4(MRI1):c.132+6GCGGGGCG[11]	MRI1	Microsatellite (intron variant)	not provided	GBenign
Select item 2126057	NM_001031727.4(MRI1):c.132+6GCGGGGCG[6]	MRI1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2014921	NM_001031727.4(MRI1):c.132+6GCGGGGCG[9]	MRI1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1995433	NM_001031727.4(MRI1):c.132+6GCGGGGCG[7]	MRI1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1995432	NM_001031727.4(MRI1):c.132+6GCGGGGCG[5]	MRI1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2463387	NM_001031727.4(MRI1):c.154G>T (p.Ala52Ser)	LOC130063724, MRI1 (A52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392308	NM_001031727.4(MRI1):c.212G>A (p.Gly71Glu)	MRI1 (G71E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204869	NM_001031727.4(MRI1):c.239G>T (p.Arg80Leu)	MRI1 (R80L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359940	NM_001031727.4(MRI1):c.286A>G (p.Met96Val)	MRI1 (M96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353475	NM_001031727.4(MRI1):c.290C>G (p.Ala97Gly)	MRI1 (A97G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732024	NM_001031727.4(MRI1):c.303C>T (p.Arg101=)	MRI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2339051	NM_001031727.4(MRI1):c.325C>T (p.Arg109Trp)	MRI1 (R109W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718651	NM_001031727.4(MRI1):c.352G>A (p.Glu118Lys)	MRI1 (E118K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2689445	NM_001031727.4(MRI1):c.363_371+2del	MRI1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2307018	NM_001031727.4(MRI1):c.439G>C (p.Gly147Arg)	MRI1 (G147R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 748431	NM_001031727.4(MRI1):c.453C>G (p.Leu151=)	MRI1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3204887	NM_001031727.4(MRI1):c.460C>G (p.Arg154Gly)	MRI1 (R154G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366668	NM_001031727.4(MRI1):c.460C>T (p.Arg154Trp)	MRI1 (R154W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335727	NM_001031727.4(MRI1):c.467C>T (p.Ala156Val)	MRI1 (A156V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 732334	NM_001031727.4(MRI1):c.474C>T (p.Ser158=)	MRI1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2243413	NM_001031727.4(MRI1):c.482A>C (p.Lys161Thr)	MRI1 (K161T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3295872	NM_001031727.4(MRI1):c.520G>A (p.Ala174Thr)	MRI1 (A174T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204900	NM_001031727.4(MRI1):c.526G>A (p.Ala176Thr)	MRI1 (A176T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288041	NM_001031727.4(MRI1):c.533A>G (p.Tyr178Cys)	MRI1 (Y178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206981	NM_001031727.4(MRI1):c.607C>T (p.Arg203Trp)	MRI1 (R174W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204909	NM_001031727.4(MRI1):c.622G>A (p.Gly208Arg)	MRI1 (G179R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 183306	NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln)	MRI1 (R210Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204912	NM_001031727.4(MRI1):c.664C>T (p.Pro222Ser)	MRI1 (P175S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295867	NM_001031727.4(MRI1):c.667G>A (p.Ala223Thr)	MRI1 (A194T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223080	NM_001031727.4(MRI1):c.682G>A (p.Asp228Asn)	MRI1 (D181N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781459	NM_001031727.4(MRI1):c.703A>G (p.Met235Val)	MRI1 (M188V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2649398	NM_001031727.4(MRI1):c.707C>T (p.Ala236Val)	MRI1 (A189V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689444	NM_001031727.4(MRI1):c.722C>G (p.Ser241Ter)	MRI1 (S194* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 724966	NM_001031727.4(MRI1):c.724+10C>G	MRI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3295870	NM_001031727.4(MRI1):c.767C>G (p.Thr256Arg)	MRI1 (T209R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270852	NM_001031727.4(MRI1):c.769G>A (p.Ala257Thr)	MRI1 (A228T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204929	NM_001031727.4(MRI1):c.833T>G (p.Val278Gly)	MRI1 (V231G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204932	NM_001031727.4(MRI1):c.884T>A (p.Ile295Asn)	MRI1 (I248N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204937	NM_001031727.4(MRI1):c.898C>G (p.Arg300Gly)	MRI1 (R253G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604324	NM_001031727.4(MRI1):c.899G>A (p.Arg300Gln)	MRI1 (R271Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372092	NM_001031727.4(MRI1):c.928G>T (p.Gly310Trp)	MRI1 (G263W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714762	NM_001031727.4(MRI1):c.975C>T (p.Phe325=)	MRI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2387713	NM_001031727.4(MRI1):c.991G>A (p.Asp331Asn)	MRI1 (D284N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512513	NM_001031727.4(MRI1):c.1006G>A (p.Gly336Ser)	MRI1 (G289S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204851	NM_001031727.4(MRI1):c.1009A>G (p.Ile337Val)	MRI1 (I290V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717639	NM_001031727.4(MRI1):c.1049G>A (p.Arg350Gln)	MRI1 (R303Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2227929	NM_001031727.4(MRI1):c.1064C>A (p.Thr355Asn)	MRI1 (T326N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315065	NM_001031727.4(MRI1):c.1093G>A (p.Asp365Asn)	MRI1 (D318N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333018	NM_001031727.4(MRI1):c.1100C>A (p.Pro367His)	MRI1 (P367H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1276571	NM_001031727.4(MRI1):c.*4A>G	MRI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 253840	GRCh37/hg19 19p13.2-13.12(chr19:13802749-14003761)x3	MIR24-2, C19orf53 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 71