Full data view for gene MLIP

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

20 entries on 1 page. Showing entries 1 - 20.
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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.628C>T r.(?) p.(Gln210Ter) Both (homozygous) - pathogenic (recessive) g.53989646C>T g.54124848C>T NM_001281746.2:c.595C>T - MLIP_000004 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat3 PubMed: Lopes Abath Neto 2021 adopted F - China - - - - - 1 Johan den Dunnen
?/. - c.640G>T r.(?) p.(Gly214Trp) Unknown - VUS g.53989658G>T - - - MLIP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.715A>G r.646_715del p.Thr217IlefsTer17 Both (homozygous) - pathogenic (recessive) g.54001582A>G g.54136784A>G NM_001281746.2:c.682A>G - MLIP_000005 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP FamPat6 PubMed: Lopes Abath Neto 2021 2-generation family, 2 affected borthers, unaffected heterozygous carrier parents M no Morocco - - - - - 2 Johan den Dunnen
+/. - c.715A>G r.646_715del p.Thr217IlefsTer17 Both (homozygous) - pathogenic (recessive) g.54001582A>G g.54136784A>G NM_001281746.2:c.682A>G - MLIP_000005 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MYOP FamPat7 PubMed: Lopes Abath Neto 2021 brother M no Morocco - - - - - 1 Johan den Dunnen
+/. - c.1739del r.(?) p.(His580ProfsTer7) Both (homozygous) - pathogenic (recessive) g.54002606del g.54137808del NM_001281746.2:c.1706delA - MLIP_000006 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat1 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.1825A>T r.(?) p.(Lys609Ter) Both (homozygous) - pathogenic (recessive) g.54002692A>T g.54137894A>T - - MLIP_000012 - PubMed: Salzer-Sheelo 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MYOP Fam2Pat2 PubMed: Salzer-Sheelo 2022 7-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F yes United States Amish - - - - 4 Johan den Dunnen
+/. - c.1825A>T r.(?) p.(Lys609Ter) Both (homozygous) - pathogenic (recessive) g.54002692A>T g.54137894A>T - - MLIP_000012 - PubMed: Salzer-Sheelo 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MYOP Fam2Pat3 PubMed: Salzer-Sheelo 2022 brother M yes United States Amish - - - - 1 Johan den Dunnen
+/. - c.1825A>T r.(?) p.(Lys609Ter) Both (homozygous) - pathogenic (recessive) g.54002692A>T g.54137894A>T - - MLIP_000012 - PubMed: Salzer-Sheelo 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MYOP Fam2Pat4 PubMed: Salzer-Sheelo 2022 relative M yes United States Amish - - - - 1 Johan den Dunnen
+/. - c.1825A>T r.(?) p.(Lys609Ter) Both (homozygous) - pathogenic (recessive) g.54002692A>T g.54137894A>T - - MLIP_000012 - PubMed: Salzer-Sheelo 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MYOP Fam2Pat5 PubMed: Salzer-Sheelo 2022 brother relative M yes United States Amish - - - - 1 Johan den Dunnen
+/. - c.1832del r.(?) p.(Phe611SerfsTer10) Maternal (confirmed) - pathogenic (recessive) g.54002699del g.54137901del NM_001281746.2:c.1799delT - MLIP_000007 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat2 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Johan den Dunnen
-?/. - c.1877G>T r.(?) p.(Arg626Ile) Unknown - likely benign g.54002744G>T - MLIP(NM_001281747.2):c.1877G>T (p.(Arg626Ile)) - MLIP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2060C>A r.(?) p.(Thr687Asn) Unknown - VUS g.54002927C>A - - - MLIP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2099C>G r.(?) p.(Pro700Arg) Unknown - likely benign g.54002966C>G - MLIP(NM_001281747.2):c.2099C>G (p.(Pro700Arg)) - MLIP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2273del r.(?) p.(Leu758CysfsTer8) Both (homozygous) ACMG likely pathogenic (recessive) g.54013909del g.54149111del - - MLIP_000010 - PubMed: Bermejo-Guerrero 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP patient PubMed: Bermejo-Guerrero 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Spain - - - - - 1 Johan den Dunnen
+/. - c.2284C>T r.[0,2284c>u] p.[0,Gln762Ter] Both (homozygous) - pathogenic (recessive) g.54013920C>T g.54149122C>T - - MLIP_000011 transcript likely undergoes nonsense-mediated mRNA decay PubMed: Mezreani 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES, RNA-seq MYOP patient PubMed: Mezreani 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - - - - 1 Johan den Dunnen
+/. - c.2443del r.(?) p.(Ser815LeufsTer49) Paternal (confirmed) - pathogenic (recessive) g.54025541del g.54160743del NM_001281746.2:c.2410delT - MLIP_000008 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat2 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Johan den Dunnen
+/. - c.2494_2497del r.(?) p.(Val832LysfsTer31) Paternal (confirmed) - pathogenic (recessive) g.54025592_54025595del g.54160794_54160797del NM_001281746.2:c.2461_2464delGTCA - MLIP_000003 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat5 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Ireland;Germany;Italy;American-native - - - - 1 Johan den Dunnen
+/. - c.2530C>T r.(?) p.(Arg844Ter) Both (homozygous) - pathogenic (recessive) g.54034356C>T g.54169558C>T NM_001281746.2:c.2497C>T - MLIP_000009 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat4 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Afghanistan - - - - - 1 Johan den Dunnen
+/. - c.2530C>T r.(?) p.(Arg844Ter) Both (homozygous) - pathogenic (recessive) g.54034356C>T g.54169558C>T - - MLIP_000009 - PubMed: Salzer-Sheelo 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam1Pat1 PubMed: Salzer-Sheelo 2022 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Israel Arab-Muslim - - - - 1 Johan den Dunnen
+/. - c.2589+1G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.54054713G>A g.54189915G>A NM_001281746.2:c.2556+1G>A - MLIP_000002 - PubMed: Lopes Abath Neto 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat5 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Ireland;Germany;Italy;American-native - - - - 1 Johan den Dunnen
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