Full data view for gene MYLPF

Information The variants shown are described using the NM_013292.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-3203028_*1499463dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-2286178_*4210779del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-5580G>T r.(?) p.(=) Unknown - likely benign g.30380599G>T - TBC1D10B(NM_015527.4):c.906C>A (p.R302=) - MYLPF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5153G>A r.(?) p.(=) Unknown - likely benign g.30381026G>A - TBC1D10B(NM_015527.3):c.479C>T (p.(Thr160Met)) - MYLPF_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4971T>G r.(?) p.(=) Unknown - likely benign g.30381208T>G g.30369887T>G TBC1D10B(NM_015527.4):c.297A>C (p.E99D) - TBC1D10B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4723C>G r.(?) p.(=) Unknown - VUS g.30381456C>G g.30370135C>G TBC1D10B(NM_015527.3):c.49G>C (p.(Ala17Pro)) - TBC1D10B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4705G>A r.(?) p.(=) Unknown - likely benign g.30381474G>A - TBC1D10B(NM_015527.4):c.31C>T (p.P11S) - MYLPF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4700A>T r.(?) p.(=) Unknown - likely benign g.30381479A>T - TBC1D10B(NM_015527.4):c.26T>A (p.V9E) - MYLPF_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3+7G>A r.(=) p.(=) Unknown - likely benign g.30386188G>A - MYLPF(NM_013292.5):c.3+7G>A - MYLPF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61A>G r.(?) p.(Met21Val) Unknown - VUS g.30387198A>G - MYLPF(NM_001324458.1):c.61A>G (p.(Met21Val)) - MYLPF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.98C>T r.(?) p.(Ala33Val) Maternal (confirmed) - pathogenic (dominant) g.30387467C>T g.30376146C>T - - MYLPF_000001 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamHPatIV3 PubMed: Chong 2020 4-generation family, 6 affected (5F, M) F - France - - - - - 6 Johan den Dunnen
+/. - c.98C>T r.(?) p.(Ala33Val) Maternal (confirmed) - pathogenic (dominant) g.30387467C>T g.30376146C>T - - MYLPF_000001 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamHPatIII6 PubMed: Chong 2020 - F - France - - - - - 1 Johan den Dunnen
+/. - c.98C>T r.(?) p.(Ala33Val) Maternal (confirmed) - pathogenic (dominant) g.30387467C>T g.30376146C>T - - MYLPF_000001 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamHPatII7 PubMed: Chong 2020 - F - France - - - - - 1 Johan den Dunnen
+/. - c.98C>T r.(?) p.(Ala33Val) Maternal (confirmed) - pathogenic (dominant) g.30387467C>T g.30376146C>T - - MYLPF_000001 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamHPatIII2 PubMed: Chong 2020 - F - France - - - - - 1 Johan den Dunnen
+/. - c.98C>T r.(?) p.(Ala33Val) Maternal (confirmed) - pathogenic (dominant) g.30387467C>T g.30376146C>T - - MYLPF_000001 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamHPatIV1 PubMed: Chong 2020 - M - France - - - - - 1 Johan den Dunnen
?/. - c.111C>G r.(?) p.(Ile37Met) Unknown - VUS g.30387480C>G - MYLPF(NM_013292.5):c.111C>G (p.(Ile37Met)) - MYLPF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175C>A r.(?) p.(Arg59Ser) Unknown - VUS g.30387746C>A - MYLPF(NM_013292.3):c.175C>A (p.(Arg59Ser)) - MYLPF_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356+10G>A r.(=) p.(=) Unknown - likely benign g.30388029G>A - MYLPF(NM_013292.5):c.356+10G>A - MYLPF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356+287G>A r.(=) p.(=) Unknown - likely benign g.30388306G>A - MYLPF(NM_013292.5):c.356+287G>A - MYLPF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457T>C r.(?) p.(Tyr153His) Unknown - VUS g.30389168T>C - MYLPF(NM_013292.5):c.457T>C (p.(Tyr153His)) - MYLPF_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.469T>C r.(?) p.(Cys157Arg) Both (homozygous) - pathogenic (recessive) g.30389180T>C g.30377859T>C - - MYLPF_000002 - PubMed: Chong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DA FamCPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 7 c.469T>C r.(?) p.(Cys157Arg) Both (homozygous) - pathogenic (recessive) g.30389180T>C g.30377859T>C - - MYLPF_000002 - PubMed: Chong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DA FamDPatIV2 PubMed: Chong 2020 4-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - 1 Johan den Dunnen
+/. 7 c.469T>C r.(?) p.(Cys157Arg) Both (homozygous) - pathogenic (recessive) g.30389180T>C g.30377859T>C - - MYLPF_000002 - PubMed: Chong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DA FamEPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamAPatVI1 PubMed: Chong 2020 7-generation family, affected brother/sister M yes Poland - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamAPatVI2 PubMed: Chong 2020 sister F yes Poland - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DA FamBPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents M yes India - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamFPatIV8 PubMed: Chong 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents - yes India - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamFPatIV10 PubMed: Chong 2020 sister F yes India - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamFPatIII2 PubMed: Chong 2020 fetus F yes India - - - - - 1 Johan den Dunnen
+/. 7 c.470G>T r.(?) p.(Cys157Phe) Both (homozygous) - pathogenic (recessive) g.30389181G>T g.30377860G>T - - MYLPF_000003 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamFPatIII3 PubMed: Chong 2020 fetus F yes India - - - - - 1 Johan den Dunnen
+/. - c.487G>A r.(?) p.(Gly163Ser) Unknown - pathogenic (dominant) g.30389198G>A g.30377877G>A - - MYLPF_000004 - PubMed: Chong 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES DA FamGPatII1 PubMed: Chong 2020 3-generation family, affected father/son, unaffacted non-carrier grandparents M - - Jewish-Ashkenazi - - - - 2 Johan den Dunnen
+/. - c.487G>A r.(?) p.(Gly163Ser) Paternal (confirmed) - pathogenic (dominant) g.30389198G>A g.30377877G>A - - MYLPF_000004 - PubMed: Chong 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES DA FamGPatIII1 PubMed: Chong 2020 son M - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
-?/. - c.*806G>A r.(=) p.(=) Unknown - likely benign g.30390027G>A - SEPT1(NM_052838.4):c.1068-6C>T (p.(=)) - MYLPF_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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