Full data view for gene OCLN

Information The variants shown are described using the NM_002538.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-294G>A r.(?) p.(=) Unknown - benign g.68788261G>A g.69492434G>A - - OCLN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.70C>G r.(?) p.(Pro24Ala) Unknown - VUS g.68804987C>G g.69509160C>G OCLN(NM_002538.3):c.70C>G (p.P24A) - OCLN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.173_194del r.(?) p.(Trp58Phefs*10) Both (homozygous) ACMG likely pathogenic g.68805090_68805111del g.69509263_69509284del - - OCLN_000001 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - Band-like calcification with simplified gyration and polymicrogyria - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
?/. - c.412A>C r.(?) p.(Lys138Gln) Unknown - VUS g.68805329A>C g.69509502A>C OCLN(NM_001205254.1):c.412A>C (p.(Lys138Gln)), OCLN(NM_002538.3):c.412A>C (p.K138Q) - OCLN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.412A>C r.(?) p.(Lys138Gln) Unknown - VUS g.68805329A>C g.69509502A>C OCLN(NM_001205254.1):c.412A>C (p.(Lys138Gln)), OCLN(NM_002538.3):c.412A>C (p.K138Q) - OCLN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452C>T r.(?) p.(Ala151Val) Unknown - likely benign g.68805369C>T g.69509542C>T OCLN(NM_002538.3):c.452C>T (p.A151V) - OCLN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456G>A r.(?) p.(Ala152=) Unknown - likely benign g.68805373G>A g.69509546G>A OCLN(NM_002538.3):c.456G>A (p.A152=) - OCLN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A r.(?) p.(Val157Ile) Unknown - likely benign g.68805386G>A g.69509559G>A OCLN(NM_002538.3):c.469G>A (p.V157I) - OCLN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.606G>T r.(?) p.(Gln202His) Unknown - VUS g.68805523G>T g.69509696G>T - - OCLN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.671C>G r.(?) p.(Ala224Gly) Unknown - VUS g.68805588C>G g.69509761C>G OCLN(NM_002538.3):c.671C>G (p.A224G) - OCLN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.699G>A r.(?) p.(Leu233=) Unknown - benign g.68805616G>A g.69509789G>A OCLN(NM_002538.3):c.699G>A (p.L233=) - OCLN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.699G>A r.(=) p.(=) Parent #1 - benign g.68805616G>A g.69509789G>A - - OCLN_000006 33 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs35107257 Germline - 33/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 33 Mohammed Faruq
?/. - c.892-11G>A r.(=) p.(=) Unknown - VUS g.68830510G>A g.69534683G>A OCLN(NM_002538.3):c.892-11G>A - OCLN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.921C>T r.(?) p.(Asp307=) Unknown - likely benign g.68830550C>T g.69534723C>T OCLN(NM_002538.3):c.921C>T (p.D307=) - OCLN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.922G>C r.(?) p.(Val308Leu) Unknown - benign g.68830551G>C g.69534724G>C OCLN(NM_002538.3):c.922G>C (p.V308L) - OCLN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.937T>A r.(?) p.(Ser313Thr) Unknown - VUS g.68830566T>A g.69534739T>A OCLN(NM_002538.3):c.937T>A (p.S313T) - OCLN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1037+1G>A r.spl? p.? Unknown - pathogenic g.68830667G>A g.69534840G>A - - OCLN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073C>T r.(?) p.(Ser358Leu) Unknown - VUS g.68840766C>T g.69544939C>T OCLN(NM_001205254.1):c.1073C>T (p.(Ser358Leu)) - OCLN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1132T>C r.(?) p.(Ser378Pro) Unknown - likely benign g.68840825T>C g.69544998T>C OCLN(NM_002538.3):c.1132T>C (p.S378P) - OCLN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187A>G r.(?) p.(Asp396Gly) Unknown - VUS g.68840880A>G g.69545053A>G OCLN(NM_001205254.1):c.1187A>G (p.(Asp396Gly)) - OCLN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1215C>T r.(?) p.(Gly405=) Unknown - likely benign g.68840908C>T g.69545081C>T - - OCLN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1512G>C r.(?) p.(Lys504Asn) Unknown - likely benign g.68849441G>C g.69553614G>C OCLN(NM_002538.3):c.1512G>C (p.K504N) - OCLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1512G>C r.(?) p.(Lys504Asn) Unknown - benign g.68849441G>C g.69553614G>C OCLN(NM_002538.3):c.1512G>C (p.K504N) - OCLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1512G>C r.(?) p.(Lys504Asn) Unknown - VUS g.68849441G>C g.69553614G>C OCLN(NM_002538.3):c.1512G>C (p.K504N) - OCLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1530C>G r.(?) p.(Ile510Met) Unknown - VUS g.68849459C>G g.69553632C>G OCLN(NM_002538.3):c.1530C>G (p.I510M) - OCLN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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