ClinVar for Gene (Select 10367) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244973	NC_000010.10:g.(?_74267893)_(74268047_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 3244972	NC_000010.10:g.(?_74326371)_(74326551_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 3126317	NM_001195518.2(MICU1):c.83A>T (p.Gln28Leu)	MICU1 (Q28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126316	NM_001195518.2(MICU1):c.71C>T (p.Ser24Leu)	MICU1 (S24L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126315	NM_001195518.2(MICU1):c.308G>A (p.Arg103His)	MICU1 (R103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3020934	NM_001195518.2(MICU1):c.205G>A (p.Asp69Asn)	MICU1 (D69N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012500	NM_001195518.2(MICU1):c.1271-20_1271-18del	MICU1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3005956	NM_001195518.2(MICU1):c.999C>G (p.Ala333=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004453	NM_001195518.2(MICU1):c.1072-12C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999522	NM_001195518.2(MICU1):c.975G>A (p.Arg325=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994820	NM_001195518.2(MICU1):c.973_974del (p.Arg325fs)	MICU1 (R331fs +3 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2991426	NM_001195518.2(MICU1):c.1278C>T (p.Gly426=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984917	NM_001195518.2(MICU1):c.54A>G (p.Arg18=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980181	NM_001195518.2(MICU1):c.129A>G (p.Ala43=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969029	NM_001195518.2(MICU1):c.735+11del	MICU1	Deletion (intron variant)	not provided	GLikely benign
Select item 2966613	NM_001195518.2(MICU1):c.369G>A (p.Thr123=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966599	NM_001195518.2(MICU1):c.653-17T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966550	NM_001195518.2(MICU1):c.934-4C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963620	NM_001195518.2(MICU1):c.493+16G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961092	NM_001195518.2(MICU1):c.933+19C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959660	NM_001195518.2(MICU1):c.912G>A (p.Gln304=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958217	NM_001195518.2(MICU1):c.879C>T (p.Ile293=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957036	NM_001195518.2(MICU1):c.429A>C (p.Ala143=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956348	NM_001195518.2(MICU1):c.375C>T (p.Asp125=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955879	NM_001195518.2(MICU1):c.537+17A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898871	NM_001195518.2(MICU1):c.1072-7C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890914	NM_001195518.2(MICU1):c.1113A>G (p.Leu371=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874670	NM_001195518.2(MICU1):c.337G>T (p.Glu113Ter)	MICU1 (E113*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2873292	NM_001195518.2(MICU1):c.537+16C>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872528	NM_001195518.2(MICU1):c.162-2A>G	MICU1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2865288	NM_001195518.2(MICU1):c.1254A>G (p.Ala418=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849861	NM_001195518.2(MICU1):c.69A>C (p.Gly23=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809049	NM_001195518.2(MICU1):c.931G>T (p.Glu311Ter)	MICU1 (E311* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2803437	NM_001195518.2(MICU1):c.933+18T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801422	NM_001195518.2(MICU1):c.331-19T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800612	NM_001195518.2(MICU1):c.161+17C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793610	NM_001195518.2(MICU1):c.1149T>C (p.Phe383=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793574	NM_001195518.2(MICU1):c.1270+18G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785527	NM_001195518.2(MICU1):c.652+11A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775705	NM_001195518.2(MICU1):c.537+8A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754710	NM_001195518.2(MICU1):c.1164A>G (p.Gly388=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748859	NM_001195518.2(MICU1):c.538-2A>G	MICU1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2733162	NM_001195518.2(MICU1):c.840C>T (p.Thr280=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704159	NM_001195518.2(MICU1):c.492A>G (p.Glu164=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2697483	NM_001195518.2(MICU1):c.933+15G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690642	NM_001195518.2(MICU1):c.765dup (p.Met256fs)	MICU1 (M256fs +3 more)	Duplication (frameshift variant)	Proximal myopathy with extrapyramidal signs	GLikely pathogenic
Select item 2685381	GRCh37/hg19 10q22.1(chr10:73321269-74612651)x1	ANAPC16, ASCC1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640578	NM_001195518.2(MICU1):c.1233C>T (p.His411=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631843	NM_001195518.2(MICU1):c.553C>T (p.Arg185Ter)	MICU1 (R185* +2 more)	Single nucleotide variant (nonsense +1 more)	MICU1-related disorder	GLikely pathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2550997	NM_001195518.2(MICU1):c.341A>G (p.Tyr114Cys)	MICU1 (Y114C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499626	GRCh38/hg38 10q22.1(chr10:72485363-72566418)	LOC130004065, MICU1	Copy number loss	See cases	GPathogenic
Select item 2484119	NM_001195518.2(MICU1):c.1052A>G (p.Lys351Arg)	MICU1 (K153R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425508	NC_000010.10:g.(?_74322633)_(74326551_?)dup	MICU1	Duplication	not provided	GUncertain significance
Select item 2425507	NC_000010.10:g.(?_74135521)_(74326551_?)dup	MICU1	Duplication	not provided	GUncertain significance
Select item 2425506	NC_000010.10:g.(?_74182972)_(74326551_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 2425505	NC_000010.10:g.(?_74167667)_(74183149_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 2425504	NC_000010.10:g.(?_74322633)_(74322841_?)del	MICU1	Deletion	not provided	GPathogenic
Select item 2418011	NM_001195518.2(MICU1):c.1274A>G (p.Asn425Ser)	MICU1 (N227S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414902	NM_001195518.2(MICU1):c.77C>G (p.Pro26Arg)	MICU1 (P26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414129	NM_001195518.2(MICU1):c.549G>A (p.Gln183=)	MICU1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2295311	NM_001195518.2(MICU1):c.696G>C (p.Leu232Phe)	MICU1 (L232F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280370	NM_001195518.2(MICU1):c.790C>A (p.Pro264Thr)	MICU1 (P266T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275902	NM_001195518.2(MICU1):c.1001A>G (p.Tyr334Cys)	MICU1 (Y136C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266814	NM_001195518.2(MICU1):c.1203G>C (p.Arg401Ser)	MICU1 (R203S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253318	NM_001195518.2(MICU1):c.187G>A (p.Val63Ile)	MICU1 (V63I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252978	NM_001195518.2(MICU1):c.1253C>T (p.Ala418Val)	MICU1 (A424V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183405	NM_001195518.2(MICU1):c.1154A>G (p.His385Arg)	MICU1 (H385R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172344	NM_001195518.2(MICU1):c.845T>C (p.Phe282Ser)	MICU1 (F282S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132595	NM_001195518.2(MICU1):c.735+14G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130997	NM_001195518.2(MICU1):c.190G>A (p.Asp64Asn)	MICU1 (D64N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129659	NM_001195518.2(MICU1):c.1071+14G>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127778	NM_001195518.2(MICU1):c.263del (p.Lys88fs)	MICU1 (K88fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2126505	NM_001195518.2(MICU1):c.903_908del (p.Lys302_Leu303del)	MICU1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2125673	NM_001195518.2(MICU1):c.759A>G (p.Gln253=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120950	NM_001195518.2(MICU1):c.736-5A>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117717	NM_001195518.2(MICU1):c.162-1G>C	MICU1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2111926	NM_001195518.2(MICU1):c.792A>C (p.Pro264=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111779	NM_001195518.2(MICU1):c.152T>C (p.Leu51Ser)	MICU1 (L51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110790	NM_001195518.2(MICU1):c.1314G>A (p.Lys438=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110575	NM_001195518.2(MICU1):c.736G>A (p.Val246Ile)	MICU1 (V48I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100173	NM_001195518.2(MICU1):c.468A>G (p.Ile156Met)	MICU1 (I156M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098416	NM_001195518.2(MICU1):c.547C>G (p.Gln183Glu)	MICU1 (Q183E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097645	NM_001195518.2(MICU1):c.114C>G (p.Phe38Leu)	MICU1 (F38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095029	NM_001195518.2(MICU1):c.259A>G (p.Lys87Glu)	MICU1 (K87E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089989	NM_001195518.2(MICU1):c.941G>A (p.Arg314His)	MICU1 (R116H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074118	NM_001195518.2(MICU1):c.88C>T (p.Arg30Trp)	MICU1 (R30W)	Single nucleotide variant (missense variant)	Proximal myopathy with extrapyramidal signs +2 more	GUncertain significance
Select item 2061478	NM_001195518.2(MICU1):c.1394A>C (p.Gln465Pro)	MICU1 (Q465P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059027	NM_001195518.2(MICU1):c.777C>T (p.Arg259=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055945	NM_001195518.2(MICU1):c.1270+12C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2054421	NM_001195518.2(MICU1):c.1124A>G (p.Asn375Ser)	MICU1 (N177S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046580	NM_001195518.2(MICU1):c.788G>A (p.Arg263His)	MICU1 (R263H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039786	NM_001195518.2(MICU1):c.83A>G (p.Gln28Arg)	MICU1 (Q28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2034476	NM_001195518.2(MICU1):c.734del (p.Gln245fs)	MICU1 (Q247fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2030822	NM_001195518.2(MICU1):c.771T>C (p.Gly257=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029160	NM_001195518.2(MICU1):c.933+2T>C	MICU1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2021359	NM_001195518.2(MICU1):c.1378A>G (p.Met460Val)	MICU1 (M462V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019007	NM_001195518.2(MICU1):c.331-18C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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