All variants in the MICU1 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_001195518.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_1i c.-2094_-2+683del r.0? p.0 - pathogenic (recessive) g.74385085_74387860del g.72625327_72628102del del ex1 - MICU1_000042 2755bp deletion PubMed: Lewis-Smith 2016, Journal: Lewis-Smith 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1i_2i c.(-2+1_-1-19)_(161+21_162-1)del r.-1_161del p.0? ACMG pathogenic (recessive) g.(74322822_74326370)_(74326571_74385767)del g.(72563064_72566612)_(72566813_72626009)del g. (?_74326370)_(74326571_?), del ex2 - MICU1_000037 ACMG PVS1, PM2 PubMed: Sharova 2022, Journal: Sharova 2022 - - Germline - - - - - Johan den Dunnen
+/. 1i_2i c.(-2+1_-1-1)_(161+1_162-1)del r.(-1_161del) p.0? - pathogenic (recessive) g.(74322822_74326390)_(74326553_74385767)del g.(72563064_72566632)_(72566795_72626009)del del ex2 - MICU1_000040 - PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 - - Germline - - - - - Johan den Dunnen
+?/. 8i_10i c.(933+1_934-69_1180+129_1181-1)dup r.? p.? - likely pathogenic (recessive) g.(74135631_74167558)_(74183198_74234857)dup g.(72375873_72407800)_(72423440_72475099)dup - (74167558_74183198)x3 mat, dup ex9-10 MICU1_000041 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. 2 c.1A>G r.(?) p.0? - pathogenic g.74326551T>C g.72566793T>C - - MICU1_000014 - PubMed: O'Grady 2016 - rs747832014 Germline yes - - - - Sandra Cooper
+/. 2 c.40del r.(?) p.(Ala14LeufsTer20) - pathogenic (recessive) g.74326513del g.72566755del - - MICU1_000044 - PubMed: Cherot 2017 - rs749124658 Germline - - - - - Johan den Dunnen
+?/. - c.52C>T r.(?) p.(Arg18Ter) - likely pathogenic (recessive) g.74326500G>A g.72566742G>A - - MICU1_000039 - PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 - - Germline - - - - - Johan den Dunnen
?/. 2 c.53G>A r.(?) p.(Gln18Arg) - VUS g.74326499C>T g.72566741C>T - - MICU1_000002 found once in 8309 European Americans, not in 3898 African Americans Exome Variant Server - - Unknown - 1/12207 controls - - - Johan den Dunnen
?/. 2 c.77C>G r.(?) p.(Pro26Arg) - VUS g.74326475G>C g.72566717G>C - - MICU1_000003 not in 3898 African Americans Exome Variant Server - - Unknown - 2/12236 controls - - - Johan den Dunnen
?/. 2 c.83A>G r.(?) p.(Gln83Arg) - VUS g.74326469T>C g.72566711T>C - - MICU1_000004 - Exome Variant Server - - Unknown - 1/12225 controls - - - Johan den Dunnen
?/. 2 c.114C>G r.(?) p.(Phe38Leu) - VUS g.74326438G>C g.72566680G>C - - MICU1_000005 - Exome Variant Server - - Unknown - 1/12225 controls - - - Johan den Dunnen
?/. - c.119G>A r.(?) p.(Gly40Glu) - VUS g.74326433C>T g.72566675C>T MICU1(NM_001363513.1):c.119G>A (p.G40E) - MICU1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.143C>T r.(?) p.(Thr48Ile) - likely benign g.74326409G>A g.72566651G>A MICU1(NM_001195518.1):c.143C>T (p.(Thr48Ile)) - MICU1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.156G>A r.(?) p.(Trp52Ter) ACMG pathogenic (recessive) g.74326396C>T g.72566638C>T - - MICU1_000046 ACMG PVS1,  PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
+/. - c.156G>A r.(?) p.(Trp52Ter) ACMG pathogenic (recessive) g.74326396C>T g.72566638C>T - - MICU1_000046 ACMG PVS1,  PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
?/. 2 c.160A>G r.(?) p.(Arg54Gly) - VUS g.74326392T>C g.72566634T>C - - MICU1_000006 - Exome Variant Server - - Unknown - 1/12175 controls - - - Johan den Dunnen
+?/. 2i c.161+1G>A r.spl p.? - likely pathogenic g.74326390C>T g.72566632C>T - - MICU1_000007 - Exome Variant Server - rs375502236 Unknown - 1/12179 controls - - - Johan den Dunnen
+/. - c.161+1G>A r.spl p.? - pathogenic (recessive) g.74326390C>T g.72566632C>T - - MICU1_000007 - PubMed: Wilton 2020, Journal: Wilton 2020 - - Germline - - - - - Johan den Dunnen
+/. - c.161+1G>A r.spl p.? - pathogenic (recessive) g.74326390C>T g.72566632C>T - - MICU1_000007 - PubMed: Saneto 2022, Journal: Saneto 2022 - - Germline yes - - - - Johan den Dunnen
+/. - c.161+1G>A r.spl p.0? - pathogenic (recessive) g.74326390C>T g.72566632C>T - - MICU1_000007 - PubMed: Klee 2021, Journal: Klee 2021 - rs375502236 Germline - - - - - Johan den Dunnen
-?/. - c.161+3G>A r.spl? p.? - likely benign g.74326388C>T g.72566630C>T MICU1(NM_006077.3):c.161+3G>A - MICU1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.211G>C r.(?) p.(Gly71Arg) - VUS g.74322772C>G g.72563014C>G - - MICU1_000008 - Exome Variant Server - - Unknown - 1/11925 controls - - - Johan den Dunnen
+?/. - c.235G>T r.(?) p.(Glu79Ter) ACMG likely pathogenic (recessive) g.74322748C>A g.72562990C>A - - MICU1_000047 ACMG PVS1,  PM2_Supporting Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
+?/. - c.235G>T r.(?) p.(Glu79Ter) ACMG likely pathogenic (recessive) g.74322748C>A g.72562990C>A - - MICU1_000047 ACMG PVS1,  PM2_Supporting Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
-?/. - c.307C>T r.(?) p.(Arg103Cys) - likely benign g.74322676G>A g.72562918G>A MICU1(NM_001195518.1):c.307C>T (p.(Arg103Cys)) - MICU1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 3i_8i c.(330+1_331-1)_(933+1_934-1)del r.? p.? ACMG likely pathogenic (recessive) g.(74183130_74234857)_(74311100_74322652)del g.(72423372_72475099)_(72551342_72562894)del - - MICU1_000049 ACMG PVS1,  PM2_Supporting Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
+?/. 3i_8i c.(330+1_331-1)_(933+1_934-1)del r.? p.? ACMG likely pathogenic (recessive) g.(74183130_74234857)_(74311100_74322652)del g.(72423372_72475099)_(72551342_72562894)del - - MICU1_000049 ACMG PVS1,  PM2_Supporting Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
?/. - c.355C>G r.(?) p.(Arg119Gly) - VUS g.74311075G>C g.72551317G>C MICU1(NM_001195518.1):c.355C>G (p.(Arg119Gly)) - MICU1_000027 VKGL data sharing initiative Nederland - - rs538329212 CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.355C>T r.(?) p.(Arg119Ter) - pathogenic (recessive) g.74311075G>A g.72551317G>A - - MICU1_000045 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs538329212 Germline yes - - - - Johan den Dunnen
+?/. 4 c.385C>T r.(?) p.(Arg129*) - likely pathogenic g.74311045G>A g.72551287G>A - - MICU1_000009 - Exome Variant Server - rs369069489 Unknown - 1/11961 controls - - - Johan den Dunnen
+/. - c.385C>T r.(?) p.(Arg129Ter) ACMG pathogenic (recessive) g.74311045G>A g.72551287G>A - - MICU1_000009 ACMG PVS1, PM3, PS4, PM2, PP3 PubMed: Bitarafan 2021, Journal: Bitarafan 2021 - rs369069489 Germline yes - - - - Johan den Dunnen
+/. 4 c.386G>C r.(?) p.(Arg129Pro) - pathogenic g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: O'Grady 2016 - rs375664373 Germline yes - - - - Sandra Cooper
+?/. - c.386G>C r.(?) p.(Arg129Pro) - likely pathogenic (recessive) g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: Wilton 2020, Journal: Wilton 2020 - rs375664373 Germline - - - - - Johan den Dunnen
+/. - c.386G>C r.(?) p.(Arg129Pro) - pathogenic (recessive) g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: Saneto 2022, Journal: Saneto 2022 - - Germline yes - - - - Johan den Dunnen
+/. - c.386G>C r.(?) p.(Arg129Pro) - pathogenic (recessive) g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: Klee 2021, Journal: Klee 2021 - rs375664373 Germline - - - - - Johan den Dunnen
+?/. 4i c.493+1G>A r.spl p.? - likely pathogenic g.74310936C>T g.72551178C>T - - MICU1_000011 - Exome Variant Server - rs375775506 Unknown - 2/11780 controls - - - Johan den Dunnen
+/. 4i c.493+1G>A r.(331_493del) p.(Val111ThrfsTer7) - pathogenic (recessive) g.74310936C>T g.72551178C>T - - MICU1_000011 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs375775506 Germline yes - - - - Johan den Dunnen
+?/. - c.508C>T r.(?) p.(Gln170Ter) - likely pathogenic (recessive) g.74293533G>A g.72533775G>A - - MICU1_000035 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs779752327 Germline yes - - - - Johan den Dunnen
+?/. 5 c.513T>A r.(?) p.(Tyr171Ter) ACMG pathogenic g.74293528A>T g.72533770A>T - - MICU1_000028 - - - - Germline - - - - - Gautham Arunachal
-?/. - c.537+9898A>G r.(?) p.(=) - likely benign g.74283606T>C g.72523848T>C MICU1(NM_001195519.1):c.12A>G (p.I4M) - MICU1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.547C>T r.(?) p.(Gln183Ter) ACMG pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 ACMG PVS1,PM2,PP1 PubMed: Anazi 2017 - rs777327250 Germline - - - - - Johan den Dunnen
+/. - c.547C>T r.(?) p.(Gln183Ter) - pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs777327250 Germline yes - - - - Johan den Dunnen
+/. - c.547C>T r.(?) p.(Gln183Ter) - pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 - PubMed: Alfares 2017, Journal: Alfares 2017 - rs777327250 Germline - - - - - Johan den Dunnen
+/. - c.547C>T r.(?) p.(Gln183Ter) - pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 - PubMed: Alkelai 2023 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs755651388 Germline yes - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Finsterer 2024, Journal: Finsterer 2024 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline yes - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline yes - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - Johan den Dunnen
-?/. - c.559A>G r.(?) p.(Lys187Glu) - likely benign g.74268006T>C g.72508248T>C MICU1(NM_006077.3):c.565A>G (p.K189E) - MICU1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.608_609dup r.(?) p.(Ile204SerfsTer30) - pathogenic g.74267957_74267958dup g.72508199_72508200dup MICU1(NM_006077.4):c.614_615dupTC (p.I206Sfs*30) - MICU1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 7 c.638_639del r.spl p.(Thr213AsnfsTer11) - likely pathogenic g.74267928_74267929del g.72508170_72508171del NM_006077.3:c.644_645del - MICU1_000010 found 19x in European Americans, 13x in African Americans Exome Variant Server - - Unknown - 32/11324 controls - - - Johan den Dunnen
+?/. 8i c.735+1G>A r.spl p.? - likely pathogenic g.74236931C>T g.72477173C>T NM_006077.3:c.741+1G>A - MICU1_000001 gene implicated in limb-girdle muscular dystrophy (LGMD) - - rs369915689 Germline - - - - - Johan den Dunnen
?/. 8i c.735+1G>A r.spl? p.? - VUS g.74236931C>T g.72477173C>T NM_006077.3:c.741+1G>A - MICU1_000001 found once in 7119 European Americans, not in 3114 African Americans Exome Variant Server - rs369915689 Unknown - 1/10233 controls - - - Johan den Dunnen
+?/. 8i c.735+1G>A r.spl p.? - likely pathogenic g.74236931C>T g.72477173C>T NM_006077.3:c.741+1G>A - MICU1_000001 exome sequencing; initially reported as LOVD VIP with contact request to jointly proof definite disease association PubMed: Logan 2014, OMIM:var0002 - rs369915689 Germline yes - - - - Marjolein Kriek
+?/. 8i c.735+1G>A r.spl p.? - likely pathogenic g.74236931C>T g.72477173C>T NM_006077.3:c.741+1G>A - MICU1_000001 initially reported as LOVD VIP with contact request to jointly proof definite disease association PubMed: Logan 2014, OMIM:var0002 - rs369915689 Germline yes - - - - Marjolein Kriek
+/. 8i c.735+1G>A r.735_736ins[A;735+2_735+155] p.Val246ThrfsTer9 - pathogenic g.74236931C>T g.72477173C>T NM_006077.3:c.741+1G>A - MICU1_000001 whole exome sequencing; fibroblast RNA; initially reported as LOVD VIP with contact request to jointly proof definite disease association PubMed: Logan 2014, OMIM:var0002 - rs369915689 Germline yes - - - - Marjolein Kriek
+?/. 8i c.735+1G>A r.spl p.? - likely pathogenic g.74236931C>T g.72477173C>T NM_006077.3:c.741+1G>A - MICU1_000001 initially reported as LOVD VIP with contact request to jointly proof definite disease association PubMed: Logan 2014, OMIM:var0002 - rs369915689 Germline yes - - - - Marjolein Kriek
+/. 8i c.735+1G>A r.spl p.? - pathogenic g.74236931C>T g.72477173C>T MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A - MICU1_000001 VKGL data sharing initiative Nederland - - rs369915689 CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 8i c.735+1G>A r.spl p.? - likely pathogenic g.74236931C>T g.72477173C>T MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A - MICU1_000001 VKGL data sharing initiative Nederland - - rs369915689 CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8i c.735+1G>A r.spl p.? - pathogenic g.74236931C>T g.72477173C>T MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A - MICU1_000001 VKGL data sharing initiative Nederland - - rs369915689 CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8i c.735+1G>A r.spl p.? - pathogenic g.74236931C>T g.72477173C>T MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A - MICU1_000001 VKGL data sharing initiative Nederland - - rs369915689 CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 8i c.735+1G>A r.spl p.? ACMG pathogenic (recessive) g.74236931C>T g.72477173C>T - - MICU1_000026 ACMG PVS1, PS4_MOD, PM2_SUP, PM3_SUP PMID:24336167 VCV000101046.9 rs369915689 Germline ? - - - - Andreas Laner
+/. 8i c.735+1G>A r.spl p.? - pathogenic (recessive) g.74236931C>T g.72477173C>T NM_006077.3:c.741 + 1G>A - MICU1_000001 - PubMed: Ten Dam 2021, Journal: Ten Dam 2021 - rs369915689 Germline yes - - - - Johan den Dunnen
+?/. 8i c.736-1G>A r.spl p.? - likely pathogenic g.74235056C>T g.72475298C>T MICU1(NM_001195518.2):c.736-1G>A - MICU1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.885C>T r.(?) p.(Asn295=) - likely benign g.74234906G>A g.72475148G>A MICU1(NM_006077.3):c.891C>T (p.N297=) - MICU1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.931G>T r.(?) p.(Glu311Ter) - pathogenic g.74234860C>A g.72475102C>A - - MICU1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.981T>G r.(?) p.(Phe327Leu) - VUS g.74183082A>C g.72423324A>C MICU1(NM_001195518.2):c.981T>G (p.(Phe327Leu)) - MICU1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1042C>T r.(?) p.(Gln348Ter) - pathogenic (recessive) g.74183021G>A g.72423263G>A NM_006077.3:c.1048C>T - MICU1_000043 - PubMed: Cherot 2017 - rs1135401814 Germline - - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping, exome sequencing PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 homozygosity mapping PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.1071_1072ins[1072-34_1072-2;C] p.Gly358ValfsTer28 - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 exome sequencing PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 exome sequencing PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - Johan den Dunnen
+?/. 10i c.1072-1G>C r.spl p.? ACMG pathogenic g.74167796C>G g.72408038C>G - - MICU1_000012 - - - rs754639936 Germline - - - - - Gautham Arunachal
+/. - c.1072-1G>C r.spl p.? - pathogenic (recessive) g.74167796C>G g.72408038C>G NM_006077:c.1078-1G>C - MICU1_000012 - PubMed: Fevga 2022, Journal: Fevga 2022 - rs754639936 Germline - - - - - Johan den Dunnen
+/. - c.1072-1G>C r.spl p.? - pathogenic (recessive) g.74167796C>G g.72408038C>G - - MICU1_000012 - PubMed: Mukherjee 2023, PubMed: Mukherjee 2023 - rs754639936 Germline - - - - - Johan den Dunnen
+?/. - c.1226C>G r.(?) p.(Ser409Ter) - likely pathogenic (recessive) g.74135585G>C g.72375827G>C - - MICU1_000034 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1270+9G>A r.(?) p.(=) - likely benign g.74135532C>T g.72375774C>T MICU1(NM_001195518.2):c.1270+9G>A - MICU1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1289del r.(1289del) p.(Asn430IlefsTer8) ACMG pathogenic (recessive) g.74128096del g.72368338del NM_006077.3:1295delA - MICU1_000036 ACMG PVS1, PM2, PM4, PP3, PP4 PubMed: Mojbafan 2020, Journal: Mojbafan 2020 - - Germline yes - - - - Johan den Dunnen
+/. - c.1289del r.(1289del) p.(Asn430IlefsTer8) - pathogenic (recessive) g.74128096del g.72368338del - - MICU1_000036 - PubMed: Mojbafan 2020, Journal: Mojbafan 2020 - - Germline yes - - - - Johan den Dunnen
+?/. - c.1312A>T r.(?) p.(Lys438Ter) - likely pathogenic g.74128072T>A g.72368314T>A - - MICU1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1319G>A r.(?) p.(Arg440Gln) - VUS g.74128065C>T g.72368307C>T MICU1(NM_001195518.2):c.1319G>A (p.(Arg440Gln)) - MICU1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1372C>T r.(?) p.(Gln458Ter) ACMG VUS g.74128012G>A g.72368254G>A - - MICU1_000048 ACMG PVS1_Moderate, PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
+/. - c.1372C>T r.(?) p.(Gln458Ter) ACMG VUS g.74128012G>A g.72368254G>A - - MICU1_000048 ACMG PVS1_Moderate, PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - Johan den Dunnen
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