Full data view for gene MICU1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_1i c.-2094_-2+683del r.0? p.0 Both (homozygous) - pathogenic (recessive) g.74385085_74387860del g.72625327_72628102del del ex1 - MICU1_000042 2755bp deletion PubMed: Lewis-Smith 2016, Journal: Lewis-Smith 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? Fam PubMed: Lewis-Smith 2016, Journal: Lewis-Smith 2016 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
+/. 1i_2i c.(-2+1_-1-19)_(161+21_162-1)del r.-1_161del p.0? Both (homozygous) 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 - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP patient PubMed: Sharova 2022, Journal: Sharova 2022 2-generation family, 1 affected, unaffected parents M - Russia - - - - - 1 Johan den Dunnen
+/. 1i_2i c.(-2+1_-1-1)_(161+1_162-1)del r.(-1_161del) p.0? Paternal (confirmed) - 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 - - - - - DNA SEQ-NG - gene panel MYOP Pat2 PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - 1 Johan den Dunnen
+?/. 8i_10i c.(933+1_934-69_1180+129_1181-1)dup r.? p.? Maternal (confirmed) - 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 - - - - - DNA arrayCGH, SEQ, SEQ-NG - cWES NMD Fam7 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.0? Parent #2 - pathogenic g.74326551T>C g.72566793T>C - - MICU1_000014 - PubMed: O'Grady 2016 - rs747832014 Germline yes - - - - DNA SEQ, SEQ-NG - - MDC Pat103 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >08y - - - 1 Sandra Cooper
+/. 2 c.40del r.(?) p.(Ala14LeufsTer20) Paternal (confirmed) - pathogenic (recessive) g.74326513del g.72566755del - - MICU1_000044 - PubMed: Cherot 2017 - rs749124658 Germline - - - - - DNA SEQ-NG - WES NDD Pat22 PubMed: Cherot 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
+?/. - c.52C>T r.(?) p.(Arg18Ter) Maternal (confirmed) - likely pathogenic (recessive) g.74326500G>A g.72566742G>A - - MICU1_000039 - PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 - - Germline - - - - - DNA SEQ-NG - gene panel MYOP Pat2 PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - 1 Johan den Dunnen
?/. 2 c.53G>A r.(?) p.(Gln18Arg) Parent #1 - 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 - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.77C>G r.(?) p.(Pro26Arg) Parent #1 - VUS g.74326475G>C g.72566717G>C - - MICU1_000003 not in 3898 African Americans Exome Variant Server - - Unknown - 2/12236 controls - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.83A>G r.(?) p.(Gln83Arg) Parent #1 - VUS g.74326469T>C g.72566711T>C - - MICU1_000004 - Exome Variant Server - - Unknown - 1/12225 controls - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.114C>G r.(?) p.(Phe38Leu) Parent #1 - VUS g.74326438G>C g.72566680G>C - - MICU1_000005 - Exome Variant Server - - Unknown - 1/12225 controls - - - - - - - - - - - - - - - - - - - - -
?/. - c.119G>A r.(?) p.(Gly40Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143C>T r.(?) p.(Thr48Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.156G>A r.(?) p.(Trp52Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.74326396C>T g.72566638C>T - - MICU1_000046 ACMG PVS1,  PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - DNA SEQ - - MYOP Fam1PatII1 Journal: Li 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - China - - - - - 2 Johan den Dunnen
+/. - c.156G>A r.(?) p.(Trp52Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.74326396C>T g.72566638C>T - - MICU1_000046 ACMG PVS1,  PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - DNA SEQ - - MYOP Fam1PatII2 Journal: Li 2025 brother M - China - - - - - 1 Johan den Dunnen
?/. 2 c.160A>G r.(?) p.(Arg54Gly) Parent #1 - VUS g.74326392T>C g.72566634T>C - - MICU1_000006 - Exome Variant Server - - Unknown - 1/12175 controls - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.161+1G>A r.spl p.? Parent #1 - likely pathogenic g.74326390C>T g.72566632C>T - - MICU1_000007 - Exome Variant Server - rs375502236 Unknown - 1/12179 controls - - - - - - - - - - - - - - - - - - - - -
+/. - c.161+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.74326390C>T g.72566632C>T - - MICU1_000007 - PubMed: Wilton 2020, Journal: Wilton 2020 - - Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Wilton 2020, Journal: Wilton 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.161+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.74326390C>T g.72566632C>T - - MICU1_000007 - PubMed: Saneto 2022, Journal: Saneto 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? family PubMed: Saneto 2022, Journal: Saneto 2022 family, 2 affected brothers M - United States - - - - - 2 Johan den Dunnen
+/. - c.161+1G>A r.spl p.0? Maternal (confirmed) - pathogenic (recessive) g.74326390C>T g.72566632C>T - - MICU1_000007 - PubMed: Klee 2021, Journal: Klee 2021 - rs375502236 Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Klee 2021, Journal: Klee 2021 1/1101 undiagnosed cases - - United States - - - - - 1 Johan den Dunnen
-?/. - c.161+3G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.211G>C r.(?) p.(Gly71Arg) Parent #1 - VUS g.74322772C>G g.72563014C>G - - MICU1_000008 - Exome Variant Server - - Unknown - 1/11925 controls - - - - - - - - - - - - - - - - - - - - -
+?/. - c.235G>T r.(?) p.(Glu79Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.74322748C>A g.72562990C>A - - MICU1_000047 ACMG PVS1,  PM2_Supporting Journal: Li 2025 - - Germline yes - - - - DNA SEQ - - MYOP Fam1PatII1 Journal: Li 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - China - - - - - 2 Johan den Dunnen
+?/. - c.235G>T r.(?) p.(Glu79Ter) Maternal (confirmed) ACMG likely pathogenic (recessive) g.74322748C>A g.72562990C>A - - MICU1_000047 ACMG PVS1,  PM2_Supporting Journal: Li 2025 - - Germline yes - - - - DNA SEQ - - MYOP Fam1PatII2 Journal: Li 2025 brother M - China - - - - - 1 Johan den Dunnen
-?/. - c.307C>T r.(?) p.(Arg103Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i_8i c.(330+1_331-1)_(933+1_934-1)del r.? p.? Maternal (confirmed) 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 - - - - DNA SEQ - - MYOP Fam2PatII1 Journal: Li 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+?/. 3i_8i c.(330+1_331-1)_(933+1_934-1)del r.? p.? Maternal (confirmed) 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 - - - - DNA SEQ - - MYOP Fam2PatII2 Journal: Li 2025 sister F - China - - - - - 1 Johan den Dunnen
?/. - c.355C>G r.(?) p.(Arg119Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.355C>T r.(?) p.(Arg119Ter) Both (homozygous) - pathogenic (recessive) g.74311075G>A g.72551317G>A - - MICU1_000045 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs538329212 Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam1PatIV1 PubMed: Beheshti 2025, Journal: Beheshti 2025 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 1 Johan den Dunnen
+?/. 4 c.385C>T r.(?) p.(Arg129*) Parent #1 - likely pathogenic g.74311045G>A g.72551287G>A - - MICU1_000009 - Exome Variant Server - rs369069489 Unknown - 1/11961 controls - - - - - - - - - - - - - - - - - - - - -
+/. - c.385C>T r.(?) p.(Arg129Ter) Both (homozygous) 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 - - - - DNA SEQ - - MYOP family PubMed: Bitarafan 2021, Journal: Bitarafan 2021 6-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 3 Johan den Dunnen
+/. 4 c.386G>C r.(?) p.(Arg129Pro) Parent #1 - pathogenic g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: O'Grady 2016 - rs375664373 Germline yes - - - - DNA SEQ, SEQ-NG - - MDC Pat103 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Australia - >08y - - - 1 Sandra Cooper
+?/. - c.386G>C r.(?) p.(Arg129Pro) Paternal (confirmed) - likely pathogenic (recessive) g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: Wilton 2020, Journal: Wilton 2020 - rs375664373 Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Wilton 2020, Journal: Wilton 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.386G>C r.(?) p.(Arg129Pro) Maternal (confirmed) - pathogenic (recessive) g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: Saneto 2022, Journal: Saneto 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? family PubMed: Saneto 2022, Journal: Saneto 2022 family, 2 affected brothers M - United States - - - - - 2 Johan den Dunnen
+/. - c.386G>C r.(?) p.(Arg129Pro) Paternal (confirmed) - pathogenic (recessive) g.74311044C>G g.72551286C>G - - MICU1_000013 - PubMed: Klee 2021, Journal: Klee 2021 - rs375664373 Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Klee 2021, Journal: Klee 2021 1/1101 undiagnosed cases - - United States - - - - - 1 Johan den Dunnen
+?/. 4i c.493+1G>A r.spl p.? Parent #1 - likely pathogenic g.74310936C>T g.72551178C>T - - MICU1_000011 - Exome Variant Server - rs375775506 Unknown - 2/11780 controls - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.493+1G>A r.(331_493del) p.(Val111ThrfsTer7) Both (homozygous) - pathogenic (recessive) g.74310936C>T g.72551178C>T - - MICU1_000011 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs375775506 Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam2PatV2 PubMed: Beheshti 2025, Journal: Beheshti 2025 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 1 Johan den Dunnen
+?/. - c.508C>T r.(?) p.(Gln170Ter) Both (homozygous) - likely pathogenic (recessive) g.74293533G>A g.72533775G>A - - MICU1_000035 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs779752327 Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam3PatIV1 PubMed: Beheshti 2025, Journal: Beheshti 2025 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 1 Johan den Dunnen
+?/. 5 c.513T>A r.(?) p.(Tyr171Ter) Unknown ACMG pathogenic g.74293528A>T g.72533770A>T - - MICU1_000028 - - - - Germline - - - - - DNA SEQ-NG - - MPXPS - - - M no India - - - - - 1 Gautham Arunachal
-?/. - c.537+9898A>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.547C>T r.(?) p.(Gln183Ter) Both (homozygous) ACMG pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 ACMG PVS1,PM2,PP1 PubMed: Anazi 2017 - rs777327250 Germline - - - - - DNA SEQ, SEQ-NG - clinical WES ID 15DG0299 PubMed: Anazi 2017 familial M - - - - - - - 1 Johan den Dunnen
+/. - c.547C>T r.(?) p.(Gln183Ter) Both (homozygous) - pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs777327250 Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam5PatV3/4 PubMed: Beheshti 2025, Journal: Beheshti 2025 5-generation family, 2 affected twin brothers, unaffected heterozygous carrier parents/relatives M yes Iran Arab - - - - 2 Johan den Dunnen
+/. - c.547C>T r.(?) p.(Gln183Ter) Both (homozygous) - pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 - PubMed: Alfares 2017, Journal: Alfares 2017 - rs777327250 Germline - - - - - DNA SEQ-NG - WES MYOP Pat84 PubMed: Alfares 2017, Journal: Alfares 2017 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.547C>T r.(?) p.(Gln183Ter) Both (homozygous) - pathogenic (recessive) g.74268018G>A g.72508260G>A - - MICU1_000022 - PubMed: Alkelai 2023 - - Germline - - - - - DNA SEQ-NG - WES SCZD patient PubMed: Alkelai 2023 - - - Israel jew - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - rs755651388 Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam6PatIII1 PubMed: Beheshti 2025, Journal: Beheshti 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Finsterer 2024, Journal: Finsterer 2024 - - Germline - - - - - DNA SEQ - - MYOP patient PubMed: Finsterer 2024, Journal: Finsterer 2024 2-generation family, 1 affected, unaffected heterozygous carrier parentsmyop F yes Austria - - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A - - MICU1_000038 - PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 - - Germline - - - - - DNA SEQ-NG - WGS MYOP Pat1 PubMed: Kohlschmidt 2021, Journal: Kohlschmidt 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam1 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam2 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected parents F no Qatar Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam3 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam4 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - cWES NMD Fam5 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 3 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam6 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected parents F no - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Paternal (confirmed) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - cWES NMD Fam7 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - cWES NMD Fam8 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 3 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam9 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Ter) Both (homozygous) - pathogenic (recessive) g.74268012G>A g.72508254G>A Q185* - MICU1_000038 - PubMed: Musa 2019, Journal: Musa 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - cWES NMD Fam10 PubMed: Musa 2019, Journal: Musa 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Arab;Middle-east - - - - 1 Johan den Dunnen
-?/. - c.559A>G r.(?) p.(Lys187Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.608_609dup r.(?) p.(Ile204SerfsTer30) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.638_639del r.spl p.(Thr213AsnfsTer11) Parent #1 - 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 - - - - - - - - - - - - - - - - - - - - -
+?/. 8i c.735+1G>A r.spl p.? Both (homozygous) - 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 - - - - - DNA SEQ, SEQ-NG-I - - LGMD2 - - - - - Netherlands - - 1 - - 1 Johan den Dunnen
?/. 8i c.735+1G>A r.spl? p.? Parent #1 - 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 - - - - - - - - - - - - - - - - - - - - -
+?/. 8i c.735+1G>A r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 9-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents, sister-1 F yes Netherlands - >23y - - - 2 Marjolein Kriek
+?/. 8i c.735+1G>A r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 9-generation family, sister-2 F yes Netherlands - >7y - - - 1 Marjolein Kriek
+/. 8i c.735+1G>A r.735_736ins[A;735+2_735+155] p.Val246ThrfsTer9 Both (homozygous) - 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 - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 3-generation family, brother-1 M no Netherlands - >8y - - - 2 Marjolein Kriek
+?/. 8i c.735+1G>A r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 3-generation family, brother-2 M no Netherlands - >3y1m - - - 1 Marjolein Kriek
+/. 8i c.735+1G>A r.spl p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8i c.735+1G>A r.spl p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.735+1G>A r.spl p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.735+1G>A r.spl p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.735+1G>A r.spl p.? Both (homozygous) 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 ? - - - - DNA SEQ-NG-I - - MPXPS 198231 - - M ? Germany - - - - - 1 Andreas Laner
+/. 8i c.735+1G>A r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - LGMD Pat12/13 PubMed: Ten Dam 2021, Journal: Ten Dam 2021 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 2 Johan den Dunnen
+?/. 8i c.736-1G>A r.spl p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885C>T r.(?) p.(Asn295=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.931G>T r.(?) p.(Glu311Ter) Unknown - pathogenic g.74234860C>A g.72475102C>A - - MICU1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.981T>G r.(?) p.(Phe327Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Gln348Ter) Maternal (confirmed) - pathogenic (recessive) g.74183021G>A g.72423263G>A NM_006077.3:c.1048C>T - MICU1_000043 - PubMed: Cherot 2017 - rs1135401814 Germline - - - - - DNA SEQ-NG - WES NDD Pat22 PubMed: Cherot 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 2a M yes United Kingdom (Great Britain) Pakistani >5y - - - 5 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, patient 2b F yes United Kingdom (Great Britain) Pakistani >22m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 3a M yes United Kingdom (Great Britain) Pakistani >5y10m - - - 5 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, patient 3b F yes United Kingdom (Great Britain) Pakistani >3y2m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistani >10y8m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents, atient 5 M yes United Kingdom (Great Britain) Pakistani >13y7m - - - 2 Johan den Dunnen
+/. 10i c.1072-1G>C r.1071_1072ins[1072-34_1072-2;C] p.Gly358ValfsTer28 Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPXPS - PubMed: Logan 2014 4-generation family, patient 6 F yes United Kingdom (Great Britain) Pakistani >10y8m - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Pakistani >6y - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents,patient 8a F no United Kingdom (Great Britain) Pakistani >27y - - - 2 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - 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 - - - - DNA SEQ, SEQ-NG-I - - MPXPS - PubMed: Logan 2014 2-generation family, patient 8b F no United Kingdom (Great Britain) Pakistani >17y - - - 1 Johan den Dunnen
+/. 10i c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic g.74167796C>G g.72408038C>G NM_006077.3:c.1078-1G>C - MICU1_000012 - PubMed: Logan 2014, OMIM:var0001 - rs754639936 Germline yes - - - - DNA SEQ - - MPXPS - PubMed: Logan 2014 unaffected heterozygous carrier parents M no United Kingdom (Great Britain) Pakistani >13y7m - - - 1 Johan den Dunnen
+?/. 10i c.1072-1G>C r.spl p.? Unknown ACMG pathogenic g.74167796C>G g.72408038C>G - - MICU1_000012 - - - rs754639936 Germline - - - - - DNA SEQ-NG - - MPXPS - - - M no India - - - - - 1 Gautham Arunachal
+/. - c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.74167796C>G g.72408038C>G NM_006077:c.1078-1G>C - MICU1_000012 - PubMed: Fevga 2022, Journal: Fevga 2022 - rs754639936 Germline - - - - - DNA SEQ, SEQ-NG - WES DYT family PubMed: Fevga 2022, Journal: Fevga 2022 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes India - - - - - 1 Johan den Dunnen
+/. - c.1072-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.74167796C>G g.72408038C>G - - MICU1_000012 - PubMed: Mukherjee 2023, PubMed: Mukherjee 2023 - rs754639936 Germline - - - - - DNA SEQ-NG - WES MYOP patient PubMed: Mukherjee 2023, PubMed: Mukherjee 2023 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
+?/. - c.1226C>G r.(?) p.(Ser409Ter) Both (homozygous) - likely pathogenic (recessive) g.74135585G>C g.72375827G>C - - MICU1_000034 - PubMed: Beheshti 2025, Journal: Beheshti 2025 - - Germline yes - - - - DNA SEQ, SEQ-NG - - NMD Fam4PatII5 PubMed: Beheshti 2025, Journal: Beheshti 2025 3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 2 Johan den Dunnen
-?/. - c.1270+9G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1289del r.(1289del) p.(Asn430IlefsTer8) Both (homozygous) 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 - - - - DNA SEQ-NG - WES hCK FamPatV1 PubMed: Mojbafan 2020, Journal: Mojbafan 2020 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 2 Johan den Dunnen
+/. - c.1289del r.(1289del) p.(Asn430IlefsTer8) Both (homozygous) - pathogenic (recessive) g.74128096del g.72368338del - - MICU1_000036 - PubMed: Mojbafan 2020, Journal: Mojbafan 2020 - - Germline yes - - - - DNA SEQ - - hCK FamPatV2 PubMed: Mojbafan 2020, Journal: Mojbafan 2020 younger sister F yes Iran - - - - - 1 Johan den Dunnen
+?/. - c.1312A>T r.(?) p.(Lys438Ter) Unknown - likely pathogenic g.74128072T>A g.72368314T>A - - MICU1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319G>A r.(?) p.(Arg440Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1372C>T r.(?) p.(Gln458Ter) Paternal (confirmed) ACMG VUS g.74128012G>A g.72368254G>A - - MICU1_000048 ACMG PVS1_Moderate, PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - DNA SEQ - - MYOP Fam2PatII1 Journal: Li 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.1372C>T r.(?) p.(Gln458Ter) Paternal (confirmed) ACMG VUS g.74128012G>A g.72368254G>A - - MICU1_000048 ACMG PVS1_Moderate, PM2_Supporting, MP3 Journal: Li 2025 - - Germline yes - - - - DNA SEQ - - MYOP Fam2PatII2 Journal: Li 2025 sister F - China - - - - - 1 Johan den Dunnen
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