Full data view for gene OCLN

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-294G>A benign r.(?) p.(=) Unknown g.68788261G>A - - - OCLN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.70C>G VUS r.(?) p.(Pro24Ala) Unknown g.68804987C>G - OCLN(NM_002538.3):c.70C>G (p.P24A) - OCLN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.173_194del ACMG: 4 r.(?) p.(Trp58Phefs*10) Both (homozygous) 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 VUS r.(?) p.(Lys138Gln) Unknown g.68805329A>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 VUS r.(?) p.(Lys138Gln) Unknown g.68805329A>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 likely benign r.(?) p.(Ala151Val) Unknown g.68805369C>T - OCLN(NM_002538.3):c.452C>T (p.A151V) - OCLN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456G>A likely benign r.(?) p.(=) Unknown g.68805373G>A - OCLN(NM_002538.3):c.456G>A (p.A152=) - OCLN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A likely benign r.(?) p.(Val157Ile) Unknown g.68805386G>A - OCLN(NM_002538.3):c.469G>A (p.V157I) - OCLN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.606G>T VUS r.(?) p.(Gln202His) Unknown g.68805523G>T - - - OCLN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.671C>G VUS r.(?) p.(Ala224Gly) Unknown g.68805588C>G - OCLN(NM_002538.3):c.671C>G (p.A224G) - OCLN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.699G>A benign r.(?) p.(=) Unknown g.68805616G>A - OCLN(NM_002538.3):c.699G>A (p.L233=) - OCLN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.892-11G>A VUS r.(=) p.(=) Unknown g.68830510G>A - OCLN(NM_002538.3):c.892-11G>A - OCLN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.921C>T likely benign r.(?) p.(=) Unknown g.68830550C>T - OCLN(NM_002538.3):c.921C>T (p.D307=) - OCLN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.922G>C benign r.(?) p.(Val308Leu) Unknown g.68830551G>C - OCLN(NM_002538.3):c.922G>C (p.V308L) - OCLN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.937T>A VUS r.(?) p.(Ser313Thr) Unknown g.68830566T>A - OCLN(NM_002538.3):c.937T>A (p.S313T) - OCLN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1037+1G>A pathogenic r.spl? p.? Unknown g.68830667G>A - - - OCLN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073C>T VUS r.(?) p.(Ser358Leu) Unknown g.68840766C>T - OCLN(NM_001205254.1):c.1073C>T (p.(Ser358Leu)) - OCLN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1132T>C likely benign r.(?) p.(Ser378Pro) Unknown g.68840825T>C - OCLN(NM_002538.3):c.1132T>C (p.S378P) - OCLN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1215C>T likely benign r.(?) p.(=) Unknown g.68840908C>T - - - OCLN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1512G>C likely benign r.(?) p.(Lys504Asn) Unknown g.68849441G>C - OCLN(NM_002538.3):c.1512G>C (p.K504N) - OCLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1512G>C benign r.(?) p.(Lys504Asn) Unknown g.68849441G>C - OCLN(NM_002538.3):c.1512G>C (p.K504N) - OCLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1512G>C VUS r.(?) p.(Lys504Asn) Unknown g.68849441G>C - OCLN(NM_002538.3):c.1512G>C (p.K504N) - OCLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1530C>G VUS r.(?) p.(Ile510Met) Unknown g.68849459C>G - OCLN(NM_002538.3):c.1530C>G (p.I510M) - OCLN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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