Full data view for gene MSTO1

Information The variants shown are described using the NM_018116.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
?/. - c.21G>C r.(?) p.(Glu7Asp) Unknown - VUS g.155580060G>C - - - MSTO1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.22G>A r.(?) p.(Val8Met) Maternal (confirmed) - pathogenic (dominant) g.155580061G>A - - - MSTO1_000009 - PubMed: Gal 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MEOAL;MMDS8 FamPatII1 PubMed: Gal 2017 2-generation family, affected mother, daughter and 2 sons F no Hungary - - - - - 4 Johan den Dunnen
+/. - c.79C>T r.(?) p.(Gln27*) Maternal (confirmed) - pathogenic (recessive) g.155580118C>T - - - MSTO1_000012 - PubMed: Iwama 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat2 PubMed: Iwama 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.651C>G r.(?) p.(Phe217Leu) Unknown - pathogenic g.155581864C>G - MSTO1(NM_018116.4):c.651C>G (p.F217L) - MSTO1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.676C>T r.(?) p.(Gln226*) Maternal (confirmed) - likely pathogenic (recessive) g.155581889C>T g.155612098C>T - - MSTO1_000003 exon retraction PubMed: Lee 2019 ClinVar-000746658.2 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG muscle, fibroblast WES ? Pat16 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+?/. 8 c.694T>G r.(?) p.(Cys232Gly) Maternal (confirmed) ACMG likely pathogenic (recessive) g.155581988T>G g.155612197T>G - - MSTO1_000021 ACMG PM2, PM3, PP3, PP4 PubMed: Mao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDC G094-1 PubMed: Mao 2025 patient, no family history F - China - - - - - 1 Johan den Dunnen
?/. - c.767G>A r.(?) p.(Arg256Gln) Unknown - VUS g.155582061G>A - MSTO1(NM_018116.4):c.767G>A (p.(Arg256Gln)) - MSTO1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.777_779del r.(?) p.(Thr260del) Maternal (confirmed) ACGS VUS g.155582071_155582073del g.155612280_155612282del - - MSTO1_000006 - - - - Germline yes - wjqiu - - DNA SEQ-NG blood WGS ? iw019 - - M no China Chinese - - - - 1 Wenjuan Qiu
+/. - c.836G>A r.(?) p.(Arg279His) Paternal (confirmed) - pathogenic (recessive) g.155582231G>A - - - MSTO1_000010 - PubMed: Iwama 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat1 PubMed: Iwama 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.836G>A r.(?) p.(Arg279His) Paternal (confirmed) - pathogenic (recessive) g.155582231G>A - - - MSTO1_000010 - PubMed: Iwama 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat2 PubMed: Iwama 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.836G>A r.(?) p.(Arg279His) Paternal (confirmed) - pathogenic (recessive) g.155582231G>A - - - MSTO1_000010 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYOP FamPatII1 PubMed: Li 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no China - - - - - 2 Johan den Dunnen
+/. - c.836G>A r.(?) p.(Arg279His) Paternal (confirmed) - pathogenic (recessive) g.155582231G>A - - - MSTO1_000010 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYOP FamPatII2 PubMed: Li 2020 brother M no China - - - - - 1 Johan den Dunnen
-?/. - c.861C>T r.(?) p.(=) Unknown - likely benign g.155582256C>T - MSTO1(NM_018116.4):c.861C>T (p.L287=) - MSTO1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.862G>A r.(?) p.(Val288Met) Unknown - likely benign g.155582257G>A - MSTO1(NM_018116.4):c.862G>A (p.V288M) - MSTO1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.966+1G>A r.814_966del p.Glu272_Asp322del Maternal (confirmed) - pathogenic (recessive) g.155582362G>A - - - MSTO1_000008 - PubMed: Nasca 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MEOAL;MMDS8 FamBPatII2 PubMed: Nasca 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.971C>T r.971c>u p.(Thr324Ile) Paternal (confirmed) - likely pathogenic (recessive) g.155582639C>T g.155612848C>T - - MSTO1_000004 - PubMed: Lee 2019 ClinVar-000746659.2 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG muscle, fibroblast WES ? Pat16 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.971C>T r.(?) p.(Thr324Ile) Paternal (confirmed) - pathogenic (recessive) g.155582639C>T - - - MSTO1_000004 - PubMed: Nasca 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MEOAL;MMDS8 FamBPatII2 PubMed: Nasca 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 10 c.1033C>T r.(?) p.(Arg345Cys) Maternal (confirmed) - pathogenic (recessive) g.155582701C>T g.155612910C>T - - MSTO1_000001 - PubMed: Nasca 2017 - - Germline yes - - - - DNA SEQ-NG - - MEOAL;MMDS8 FamAPatII1 PubMed: Nasca 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - 2 Daniele Ghezzi
?/. - c.1034G>A r.(?) p.(Arg345His) Unknown - VUS g.155582702G>A - MSTO1(NM_018116.4):c.1034G>A (p.(Arg345His)) - MSTO1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1099-1G>A r.1099del p.Val367Trpfs*2 Maternal (confirmed) - pathogenic (recessive) g.155582839G>A - - - MSTO1_000011 - PubMed: Iwama 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat1 PubMed: Iwama 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - - - - 1 Johan den Dunnen
+/. 10i c.1099-1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.155582839G>A g.155613048G>A - - MSTO1_000011 ACMG PVS1, PM2, PM3 PubMed: Mao 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDC G094-1 PubMed: Mao 2025 patient, no family history F - China - - - - - 1 Johan den Dunnen
+/. 11 c.1109C>G r.(?) p.(Ala370Gly) Paternal (confirmed) ACMG VUS g.155582850C>G - - - MSTO1_000007 - - - - Germline yes - wjqiu - - DNA SEQ-NG blood WGS ? iw019 - - M no China Chinese - - - - 1 Wenjuan Qiu
+/. 11 c.1128C>A r.(?) p.(Phe376Leu) Paternal (confirmed) - pathogenic (recessive) g.155582869C>A g.155613078C>A - - MSTO1_000002 - PubMed: Nasca 2017 - - Germline yes - - - - DNA SEQ-NG - - MEOAL;MMDS8 FamAPatII1 PubMed: Nasca 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Italy - - - - - 2 Daniele Ghezzi
+/. - c.1259del r.(?) p.(Gly420Valfs*2) Maternal (confirmed) - pathogenic (recessive) g.155583000del g.155613209del 1259delG - MSTO1_000013 - PubMed: Li 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MYOP FamPatII1 PubMed: Li 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no China - - - - - 2 Johan den Dunnen
+/. - c.1259del r.(?) p.(Gly420Valfs*2) Maternal (confirmed) - pathogenic (recessive) g.155583000del g.155613209del 1259delG - MSTO1_000013 - PubMed: Li 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MYOP FamPatII2 PubMed: Li 2020 brother M no China - - - - - 1 Johan den Dunnen
?/. - c.1288C>G r.(?) p.(Leu430Val) Unknown - VUS g.155583257C>G - MSTO1(NM_018116.4):c.1288C>G (p.L430V) - MSTO1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356G>C r.(?) p.(Gln452His) Unknown - likely benign g.155583325G>C - MSTO1(NM_018116.4):c.1356G>C (p.(Gln452His)) - MSTO1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1484C>T r.(?) p.(Ser495Phe) Unknown - VUS g.155583543C>T - MSTO1(NM_018116.4):c.1484C>T (p.(Ser495Phe)) - MSTO1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1536C>T r.(?) p.(=) Unknown - VUS g.155583887C>T - MSTO1(NM_001350775.1):c.1561C>T (p.(Leu521Phe)) - MSTO1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1678C>T r.(?) p.(Gln560*) Unknown - VUS g.155584029C>T - - - MSTO1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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