"Invitae"[submitter] AND "MICU1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 746544	NM_001195518.2(MICU1):c.1425A>G (p.Lys475=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651611	NM_001195518.2(MICU1):c.1413C>T (p.Phe471=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912007	NM_001195518.2(MICU1):c.1410C>T (p.Asp470=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1961414	NM_001195518.2(MICU1):c.1372C>A (p.Gln458Lys)	MICU1 (Q260K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917513	NM_001195518.2(MICU1):c.1341G>A (p.Lys447=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923997	NM_001195518.2(MICU1):c.1323G>A (p.Leu441=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493076	NM_001195518.2(MICU1):c.1319G>A (p.Arg440Gln)	MICU1 (R442Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389538	NM_001195518.2(MICU1):c.1317A>G (p.Gln439=)	MICU1	Single nucleotide variant (synonymous 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 1216544	NM_001195518.2(MICU1):c.1279G>A (p.Glu427Lys)	MICU1 (E229K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991426	NM_001195518.2(MICU1):c.1278C>T (p.Gly426=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1615148	NM_001195518.2(MICU1):c.1278C>A (p.Gly426=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3012500	NM_001195518.2(MICU1):c.1271-20_1271-18del	MICU1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1640272	NM_001195518.2(MICU1):c.1271-20G>C	MICU1	Single nucleotide variant (intron 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 2055945	NM_001195518.2(MICU1):c.1270+12C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963619	NM_001195518.2(MICU1):c.1270+9G>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965992	NM_001195518.2(MICU1):c.1270+6T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908571	NM_001195518.2(MICU1):c.1257C>A (p.Leu419=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865288	NM_001195518.2(MICU1):c.1254A>G (p.Ala418=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402882	NM_001195518.2(MICU1):c.1234G>A (p.Val412Met)	MICU1 (V412M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640578	NM_001195518.2(MICU1):c.1233C>T (p.His411=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983122	NM_001195518.2(MICU1):c.1206A>G (p.Thr402=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643530	NM_001195518.2(MICU1):c.1197G>A (p.Val399=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420282	NM_001195518.2(MICU1):c.1181-4dup	MICU1	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1637005	NM_001195518.2(MICU1):c.1181-20G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967074	NM_001195518.2(MICU1):c.1181-3035A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535015	NM_001195518.2(MICU1):c.1181-3035A>T	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1920935	NM_001195518.2(MICU1):c.1180+17dup	MICU1	Duplication (intron variant)	not provided	GBenign
Select item 1946438	NM_001195518.2(MICU1):c.1180+14A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996814	NM_001195518.2(MICU1):c.1180+10C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522775	NM_001195518.2(MICU1):c.1180+1G>A	MICU1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2754710	NM_001195518.2(MICU1):c.1164A>G (p.Gly388=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1969051	NM_001195518.2(MICU1):c.1154A>C (p.His385Pro)	MICU1 (H387P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793610	NM_001195518.2(MICU1):c.1149T>C (p.Phe383=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1196144	NM_001195518.2(MICU1):c.1140A>G (p.Ala380=)	MICU1	Single nucleotide variant (synonymous 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 2890914	NM_001195518.2(MICU1):c.1113A>G (p.Leu371=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701139	NM_001195518.2(MICU1):c.1096A>C (p.Asn366His)	MICU1 (N168H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898871	NM_001195518.2(MICU1):c.1072-7C>T	MICU1	Single nucleotide variant (intron 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 2018540	NM_001195518.2(MICU1):c.1072-16G>C	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380094	NM_001195518.2(MICU1):c.1072-16G>A	MICU1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1895996	NM_001195518.2(MICU1):c.1072-18C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628882	NM_001195518.2(MICU1):c.1072-20T>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919968	NM_001195518.2(MICU1):c.1071+15C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129659	NM_001195518.2(MICU1):c.1071+14G>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507928	NM_001195518.2(MICU1):c.1071+8G>A	MICU1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1376384	NM_001195518.2(MICU1):c.1041G>T (p.Arg347Ser)	MICU1 (R347S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1461027	NM_001195518.2(MICU1):c.1035G>A (p.Met345Ile)	MICU1 (M147I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511013	NM_001195518.2(MICU1):c.1029C>T (p.Thr343=)	MICU1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1901462	NM_001195518.2(MICU1):c.1003A>G (p.Ser335Gly)	MICU1 (S337G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005956	NM_001195518.2(MICU1):c.999C>G (p.Ala333=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410762	NM_001195518.2(MICU1):c.981T>G (p.Phe327Leu)	MICU1 (F329L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997990	NM_001195518.2(MICU1):c.977A>G (p.Gln326Arg)	MICU1 (Q128R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1481467	NM_001195518.2(MICU1):c.946G>T (p.Asp316Tyr)	MICU1 (D118Y +3 more)	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 2966550	NM_001195518.2(MICU1):c.934-4C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517955	NM_001195518.2(MICU1):c.934-13G>T	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1654894	NM_001195518.2(MICU1):c.934-16T>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936795	NM_001195518.2(MICU1):c.933+20A>G	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 2803437	NM_001195518.2(MICU1):c.933+18T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697483	NM_001195518.2(MICU1):c.933+15G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930056	NM_001195518.2(MICU1):c.933+13T>C	MICU1	Single nucleotide variant (intron 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 2809049	NM_001195518.2(MICU1):c.931G>T (p.Glu311Ter)	MICU1 (E311* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2959660	NM_001195518.2(MICU1):c.912G>A (p.Gln304=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126505	NM_001195518.2(MICU1):c.903_908del (p.Lys302_Leu303del)	MICU1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1896171	NM_001195518.2(MICU1):c.902G>A (p.Arg301His)	MICU1 (R301H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999537	NM_001195518.2(MICU1):c.900del (p.Gln300fs)	MICU1 (Q102fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1921948	NM_001195518.2(MICU1):c.894A>G (p.Glu298=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441000	NM_001195518.2(MICU1):c.892G>A (p.Glu298Lys)	MICU1 (E100K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473618	NM_001195518.2(MICU1):c.891C>A (p.Leu297=)	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 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 2733162	NM_001195518.2(MICU1):c.840C>T (p.Thr280=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953241	NM_001195518.2(MICU1):c.829G>T (p.Ala277Ser)	MICU1 (A279S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922428	NM_001195518.2(MICU1):c.793A>G (p.Thr265Ala)	MICU1 (T265A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111926	NM_001195518.2(MICU1):c.792A>C (p.Pro264=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2059027	NM_001195518.2(MICU1):c.777C>T (p.Arg259=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401292	NM_001195518.2(MICU1):c.772A>G (p.Met258Val)	MICU1 (M258V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030822	NM_001195518.2(MICU1):c.771T>C (p.Gly257=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644181	NM_001195518.2(MICU1):c.765T>C (p.Ser255=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125673	NM_001195518.2(MICU1):c.759A>G (p.Gln253=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372903	NM_001195518.2(MICU1):c.758A>T (p.Gln253Leu)	MICU1 (Q55L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2120950	NM_001195518.2(MICU1):c.736-5A>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682108	NM_001195518.2(MICU1):c.736-5A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603610	NM_001195518.2(MICU1):c.735+17A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2132595	NM_001195518.2(MICU1):c.735+14G>A	MICU1	Single nucleotide variant (intron 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 101046	NM_001195518.2(MICU1):c.735+1G>A	MICU1	Single nucleotide variant (splice donor variant)	Proximal myopathy with extrapyramidal signs +1 more	GPathogenic/Likely pathogenic

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