Full data view for gene QRSL1

Information The variants shown are described using the NM_018292.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.-46344T>A r.(?) p.(=) Unknown - VUS g.107031213T>A - RTN4IP1(NM_032730.5):c.1073A>T (p.D358V) - QRSL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46302A>G r.(?) p.(=) Unknown - likely benign g.107031255A>G g.106583380A>G RTN4IP1(NM_032730.5):c.1031T>C (p.M344T) - QRSL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-37529C>T r.(?) p.(=) Unknown - likely benign g.107040028C>T - RTN4IP1(NM_032730.5):c.806+11G>A - QRSL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-37513dup r.(?) p.(=) Unknown - likely pathogenic g.107040044dup - RTN4IP1(NM_032730.5):c.804dupA (p.P269Tfs*3) - QRSL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-37462G>A r.(?) p.(=) Unknown - likely benign g.107040095G>A g.106592220G>A RTN4IP1(NM_032730.5):c.750C>T (p.D250=) - QRSL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37397C>A r.(?) p.(=) Unknown - VUS g.107040160C>A - RTN4IP1(NM_032730.5):c.685G>T (p.D229Y) - QRSL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26784G>A r.(?) p.(=) Unknown - likely benign g.107050773G>A - RTN4IP1(NM_032730.5):c.645C>T (p.(Gly215=)) - QRSL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26740A>G r.(?) p.(=) Unknown - likely benign g.107050817A>G - RTN4IP1(NM_032730.5):c.621-20T>C - QRSL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10451G>A r.(?) p.(=) Unknown - likely benign g.107067106G>A - RTN4IP1(NM_032730.5):c.591C>T (p.G197=) - QRSL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6880G>A r.(?) p.(=) Unknown - benign g.107070677G>A g.106622802G>A RTN4IP1(NM_032730.5):c.426+16C>T - QRSL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-6746C>T r.(?) p.(=) Unknown - pathogenic g.107070811C>T - RTN4IP1(NM_032730.5):c.308G>A (p.R103H) - RTN4IP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6702_-6701del r.(?) p.(=) Unknown - likely benign g.107070855_107070856del - RTN4IP1(NM_032730.5):c.275-11_275-10delGT - QRSL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-719C>T r.(?) p.(=) Unknown - VUS g.107076838C>T - RTN4IP1(NM_032730.5):c.59G>A (p.W20*) - QRSL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_ c.-116_(24+252_?){0} r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_106987026)_(107077832_?)del - hg19 chr6:106,987,026–107,077,832 - RTN4IP1_000016 CNV analysis from exome data identified a 90.8 kb maternal deletion (hg19 chr6:106,987,026–107,077,832) encompassing the entire gene, consistent with deletion of RTN4IP1 inherited from the mother. The deletion includes part of AIM1, which may be associated with human melanoma, and part of QRLS1, which is associated with an AR disorder, thus not likely disease-causing although could act as modifiers. PubMed: D'Gama 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic - PubMed: D'Gama 2021 - M no - - - - - - 1 Aude Rocatcher
-/. - c.24+17C>T r.(=) p.(=) Unknown - benign g.107077597C>T g.106629722C>T - - QRSL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Ala11=) Unknown - likely benign g.107088232G>A - - - QRSL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761A>T r.(?) p.(Asp254Val) Unknown - VUS g.107100369A>T - QRSL1(NM_018292.5):c.761A>T (p.(Asp254Val)) - QRSL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788A>G r.(?) p.(Asn263Ser) Unknown - likely benign g.107100396A>G - QRSL1(NM_018292.5):c.788A>G (p.(Asn263Ser)) - QRSL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.850-3A>G r.[850_1042del,850_931del] p.? Both (homozygous) - pathogenic g.107102602A>G g.106654727A>G - - QRSL1_000001 description at RNA level correct? - - - Germline - - - - - DNA SEQ-NG-I - - CMH - - - F yes Turkey - - - - - 1 Rick Kamps
?/. - c.1042+3A>G r.spl? p.? Both (homozygous) ACMG VUS g.107102800A>G g.106654925A>G - - QRSL1_000008 ACMG PM2, PP3 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 17-2764 PubMed: Maddirevula 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1090A>G r.(?) p.(Thr364Ala) Unknown - VUS g.107103537A>G - QRSL1(NM_018292.5):c.1090A>G (p.(Thr364Ala)) - QRSL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1202G>A r.(?) p.(Arg401His) Unknown - VUS g.107110896G>A - QRSL1(NM_018292.5):c.1202G>A (p.(Arg401His)) - QRSL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1425G>A r.(?) p.(Leu475=) Unknown - benign g.107113715G>A g.106665840G>A - - QRSL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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