10367[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 1245940	NM_001195518.2(MICU1):c.*112G>A	MICU1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291021	NM_001195518.2(MICU1):c.*100C>T	MICU1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1205683	NM_001195518.2(MICU1):c.*90G>C	MICU1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 392133	NM_001195518.2(MICU1):c.*1C>A	MICU1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 746544	NM_001195518.2(MICU1):c.1425A>G (p.Lys475=)	MICU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312116	NM_001195518.2(MICU1):c.1414G>A (p.Ala472Thr)	MICU1 (A274T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1210618	NM_001195518.2(MICU1):c.1271-31T>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675561	NM_001195518.2(MICU1):c.1271-40G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677084	NM_001195518.2(MICU1):c.1271-118G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673172	NM_001195518.2(MICU1):c.1271-277A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214478	NM_001195518.2(MICU1):c.1270+248T>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203761	NM_001195518.2(MICU1):c.1270+229A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676315	NM_001195518.2(MICU1):c.1270+26A>T	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199827	NM_001195518.2(MICU1):c.1270+23C>G	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 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 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 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 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 676314	NM_001195518.2(MICU1):c.1181-66C>A	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209246	NM_001195518.2(MICU1):c.1181-97A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673580	NM_001195518.2(MICU1):c.1181-227A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
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 673171	NM_001195518.2(MICU1):c.1180+208T>G	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 373030	NM_001195518.2(MICU1):c.1072-1G>A	MICU1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 101045	NM_001195518.2(MICU1):c.1072-1G>C	MICU1	Single nucleotide variant (splice acceptor variant)	Proximal myopathy with extrapyramidal signs +1 more	GPathogenic
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 673740	NM_001195518.2(MICU1):c.1072-270T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195861	NM_001195518.2(MICU1):c.1072-298C>T	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219573	NM_001195518.2(MICU1):c.1072-304G>A	MICU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667500	NM_001195518.2(MICU1):c.1072-341T>C	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277387	NM_001195518.2(MICU1):c.1071+75A>G	MICU1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 431145	NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)	MICU1 (Q350* +3 more)	Single nucleotide variant (nonsense)	Proximal myopathy with extrapyramidal signs	GPathogenic
Select item 1376384	NM_001195518.2(MICU1):c.1041G>T (p.Arg347Ser)	MICU1 (R347S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 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 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 +1 more	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 512929	NM_001195518.2(MICU1):c.934-14T>A	MICU1	Single nucleotide variant (intron variant)	not specified	GLikely benign

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