Full data view for gene COG6

Information The variants shown are described using the NM_001145079.1 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.-17dup r.(?) p.(=) Unknown - benign g.40229847dup g.39655710dup COG6(NR_026745.1):n.84_85insG - COG6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28G>A r.(?) p.(Ala10Thr) Unknown - benign g.40229891G>A g.39655754G>A COG6(NM_001145079.2):c.28G>A (p.A10T), COG6(NM_020751.3):c.28G>A (p.A10T) - COG6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28G>A r.(?) p.(Ala10Thr) Unknown - benign g.40229891G>A g.39655754G>A COG6(NM_001145079.2):c.28G>A (p.A10T), COG6(NM_020751.3):c.28G>A (p.A10T) - COG6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69G>T r.(?) p.(Gly23=) Unknown - likely benign g.40229932G>T - COG6(NM_001145079.1):c.69G>T (p.G23=) - COG6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94T>A r.(?) p.(Cys32Ser) Unknown - benign g.40229957T>A g.39655820T>A COG6(NM_001145079.2):c.94T>A (p.C32S), COG6(NM_020751.3):c.94T>A (p.C32S) - COG6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94T>A r.(?) p.(Cys32Ser) Unknown - benign g.40229957T>A g.39655820T>A COG6(NM_001145079.2):c.94T>A (p.C32S), COG6(NM_020751.3):c.94T>A (p.C32S) - COG6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112A>T r.(?) p.(Lys38*) Unknown - VUS g.40229975A>T - COG6(NM_001145079.1):c.112A>T (p.K38*) - COG6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.153+278T>C r.(=) p.(=) Unknown - benign g.40230294T>C g.39656157T>C COG6(NM_001145079.2):c.153+278T>C - COG6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155A>G r.(?) p.(Glu52Gly) Unknown - VUS g.40233502A>G - COG6(NM_001145079.1):c.155A>G (p.E52G) - COG6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302T>A r.(?) p.(Leu101His) Unknown - VUS g.40234951T>A - COG6(NM_001145079.1):c.302T>A (p.L101H) - COG6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362G>A r.(?) p.(Arg121His) Unknown - VUS g.40235011G>A - - - COG6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617C>T r.(?) p.(Thr206Met) Unknown - VUS g.40253751C>T g.39679614C>T COG6(NM_001145079.1):c.617C>T (p.T206M) - COG6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.680dup r.(?) p.(Tyr227Ter) Unknown - pathogenic g.40254168dup g.39680031dup COG6(NM_001145079.2):c.680dupA (p.Y227*) - COG6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.697G>A r.(?) p.(Glu233Lys) Both (homozygous) - pathogenic (recessive) g.40256310G>A g.39682173G>A - - COG6_000029 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat22 PubMed: Elmas 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. 8 c.697G>A r.(?) p.(Glu233Lys) Both (homozygous) - pathogenic (recessive) g.40256310G>A g.39682173G>A - - COG6_000029 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat23 PubMed: Elmas 2019 2-generation family, 2 affected female cousins, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+?/. - c.785A>G r.(?) p.(Tyr262Cys) Unknown - likely pathogenic g.40256398A>G g.39682261A>G COG6(NM_020751.3):c.785A>G (p.Y262C) - COG6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.968del r.(?) p.(Lys323Argfs*8) Unknown - pathogenic g.40261895del - COG6(NM_001145079.1):c.968delA (p.K323Rfs*8) - COG6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1009+9A>G r.(=) p.(=) Unknown - benign g.40261945A>G g.39687808A>G COG6(NM_020751.3):c.1009+9A>G - COG6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1075-9T>G r.(=) p.(=) Unknown - likely pathogenic g.40268762T>G g.39694625T>G - - COG6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1167-24A>G r.(=) p.(=) Both (homozygous) ACMG pathogenic g.40273614A>G g.39699477A>G NM_020751.2:c.1167-24A>G - COG6_000021 ACMG PVS1, PS4 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG1494 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.1167-24A>G r.(=) p.(=) Both (homozygous) ACMG pathogenic g.40273614A>G g.39699477A>G NM_020751.2:c.1167-24A>G - COG6_000021 ACMG PVS1, PS4 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG0268 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.1294C>T r.(?) p.(Pro432Ser) Unknown - VUS g.40293382C>T - COG6(NM_020751.3):c.1294C>T (p.P432S) - COG6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308T>G r.(?) p.(Leu436=) Unknown - likely benign g.40293396T>G - COG6(NM_001145079.1):c.1308T>G (p.L436=) - COG6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1562G>A r.(?) p.(Arg521His) Unknown - VUS g.40293942G>A - COG6(NM_001145079.1):c.1562G>A (p.R521H) - COG6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1646G>T r.(?) p.(Gly549Val) Unknown - pathogenic g.40297531G>T g.39723394G>T COG6(NM_001145079.1):c.1646G>T (p.G549V), COG6(NM_020751.3):c.1646G>T (p.G549V) - COG6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1646G>T r.(?) p.(Gly549Val) Unknown - pathogenic g.40297531G>T g.39723394G>T COG6(NM_001145079.1):c.1646G>T (p.G549V), COG6(NM_020751.3):c.1646G>T (p.G549V) - COG6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1693-7_1693-6del r.(=) p.(=) Unknown - benign g.40298638_40298639del g.39724501_39724502del COG6(NM_001145079.1):c.1693-7_1693-6delTA, COG6(NM_001145079.2):c.1693-7_1693-6delTA - COG6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1693-7_1693-6del r.(=) p.(=) Unknown - benign g.40298638_40298639del g.39724501_39724502del COG6(NM_001145079.1):c.1693-7_1693-6delTA, COG6(NM_001145079.2):c.1693-7_1693-6delTA - COG6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1759C>T r.(?) p.(Arg587Cys) Unknown - VUS g.40301618C>T - - - COG6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1826+23407C>T r.(=) p.(=) Unknown - likely benign g.40325092C>T - COG6(NM_020751.3):c.1836C>T (p.I612=) - COG6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1826+23463dup r.(=) p.(=) Unknown - VUS g.40325148dup - COG6(NM_020751.3):c.1892dupT (p.M632Dfs*6) - COG6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1827G>A r.(?) p.(Lys609=) Unknown - likely benign g.40362472G>A - COG6(NM_001145079.1):c.1827G>A (p.K609=) - COG6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1839C>T r.(?) p.(Asn613=) Unknown - likely benign g.40362484C>T - COG6(NM_001145079.1):c.1839C>T (p.N613=) - COG6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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