Full data view for gene COG5

Information The variants shown are described using the NM_006348.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.2T>C r.(?) p.(Met1?) Unknown - VUS g.107204433A>G - COG5(NM_001161520.1):c.2T>C (p.M1?) - DUS4L_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6_7del r.(?) p.(Trp3GlyfsTer20) Unknown - likely benign g.107204428_107204429del g.107563983_107563984del COG5(NM_001161520.1):c.6_7del (p.(Trp3GlyfsTer20)) - DUS4L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11T>G r.(?) p.(Val4Gly) Unknown - likely benign g.107204424A>C g.107563979A>C COG5(NM_001161520.1):c.11T>G (p.V4G, p.(Val4Gly)) - DUS4L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11T>G r.(?) p.(Val4Gly) Unknown - likely benign g.107204424A>C g.107563979A>C COG5(NM_001161520.1):c.11T>G (p.V4G, p.(Val4Gly)) - DUS4L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15C>G r.(?) p.(Gly5=) Unknown - likely benign g.107204420G>C g.107563975G>C COG5(NM_001161520.1):c.15C>G (p.G5=) - DUS4L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18_19insGC r.(?) p.(Arg7AlafsTer36) Unknown - likely benign g.107204416_107204417insGC g.107563971_107563972insGC COG5(NM_001161520.1):c.18_19insGC (p.(Arg7AlafsTer36)) - DUS4L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18_19insGGC r.(?) p.(Gly6dup) Unknown - likely benign g.107204416_107204417insGCC g.107563971_107563972insGCC COG5(NM_001161520.1):c.18_19insGGC (p.(Gly6dup)) - DUS4L_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18_19insGGGGCC r.(?) p.(Gly6_Arg7insGlyAla) Unknown - likely benign g.107204416_107204417insGGCCCC g.107563971_107563972insGGCCCC COG5(NM_001161520.1):c.18_19insGGGGCC (p.(Gly6_Arg7insGlyAla)) - DUS4L_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19dup r.(?) p.(Arg7ProfsTer17) Unknown - likely benign g.107204416dup g.107563971dup COG5(NM_001161520.1):c.19dup (p.(Arg7ProfsTer17)) - DUS4L_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19_20insCC r.(?) p.(Arg7ProfsTer36) Unknown - likely benign g.107204416_107204417insGG g.107563971_107563972insGG COG5(NM_001161520.1):c.19_20insCC (p.(Arg7ProfsTer36)) - DUS4L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86C>T r.(?) p.(Pro29Leu) Unknown - likely benign g.107204349G>A g.107563904G>A COG5(NM_001161520.2):c.-8C>T - DUS4L_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.295A>C r.(?) p.(Ile99Leu) Unknown - likely benign g.107198453T>G g.107558008T>G COG5(NM_001161520.1):c.295A>C (p.(Ile99Leu)), COG5(NM_006348.5):c.202A>C (p.I68L) - DUS4L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295A>C r.(?) p.(Ile99Leu) Unknown - VUS g.107198453T>G - COG5(NM_001161520.1):c.295A>C (p.(Ile99Leu)), COG5(NM_006348.5):c.202A>C (p.I68L) - DUS4L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299G>A r.(?) p.(Ser100Asn) Unknown - VUS g.107198449C>T g.107558004C>T COG5(NM_001161520.2):c.206G>A (p.S69N) - DUS4L_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.327+16T>A r.(=) p.(=) Unknown - benign g.107198405A>T g.107557960A>T COG5(NM_001161520.2):c.234+16T>A - COG5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.330del r.(?) p.(Val111LeufsTer23) Unknown - pathogenic g.107194786del g.107554341del COG5(NM_001161520.1):c.330delT (p.V111Lfs*23) - DUS4L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.386-5C>T r.spl? p.? Unknown - likely benign g.107188782G>A g.107548337G>A COG5(NM_001161520.1):c.386-5C>T (p.?) - DUS4L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.440+4C>A r.spl? p.? Unknown - benign g.107188719G>T g.107548274G>T COG5(NM_001161520.2):c.347+4C>A - DUS4L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.470A>G r.(?) p.(Asn157Ser) Unknown - VUS g.107188596T>C - COG5(NM_001161520.2):c.377A>G (p.N126S) - DUS4L_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544A>G r.(?) p.(Ile182Val) Parent #1 - VUS g.107167769T>C g.107527324T>C - - COG5_000008 conflicting interpretations of pathogenicity; 7 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79413133 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.544A>G r.(?) p.(Ile182Val) Both (homozygous) - VUS g.107167769T>C g.107527324T>C - - COG5_000008 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79413133 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.644A>G r.(?) p.(Gln215Arg) Unknown - likely benign g.107053065T>C g.107412620T>C COG5(NM_001161520.1):c.644A>G (p.(Gln215Arg)), COG5(NM_006348.5):c.551A>G (p.Q184R) - DUS4L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.644A>G r.(?) p.(Gln215Arg) Unknown - VUS g.107053065T>C - COG5(NM_001161520.1):c.644A>G (p.(Gln215Arg)), COG5(NM_006348.5):c.551A>G (p.Q184R) - DUS4L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.762+18_762+19del r.(=) p.(=) Unknown - benign g.107052929_107052930del g.107412484_107412485del COG5(NM_001161520.2):c.669+18_669+19delGT - COG5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.988T>C r.(?) p.(Phe330Leu) Unknown - benign g.107002806A>G g.107362361A>G COG5(NM_001161520.2):c.895T>C (p.F299L) - COG5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1120-12T>A r.spl p.(Asp374Phefs*40) Both (homozygous) ACMG pathogenic g.106964978A>T g.107324533A>T - - COG5_000009 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG2577 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.1130C>T r.(?) p.(Pro377Leu) Unknown - likely benign g.106964956G>A g.107324511G>A COG5(NM_001161520.1):c.1130C>T (p.(Pro377Leu)) - DUS4L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1201+5G>A r.(?) p.(?) Both (homozygous) ACMG VUS g.106964880C>T g.107324435C>T - - COG5_000005 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.1304A>G r.(?) p.(Gln435Arg) Unknown - VUS g.106938689T>C g.107298244T>C COG5(NM_001161520.1):c.1304A>G (p.Q435R) - DUS4L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1304A>G r.(?) p.(Gln435Arg) Parent #1 - VUS g.106938689T>C g.107298244T>C - - DUS4L_000007 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs189560910 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.1331C>T r.(?) p.(Thr444Ile) Unknown - likely benign g.106938662G>A - COG5(NM_001161520.1):c.1331C>T (p.T444I) - DUS4L_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1340A>G r.(?) p.(Tyr447Cys) Parent #1 - likely benign g.106938653T>C g.107298208T>C - - DUS4L_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41276187 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1355A>G r.(?) p.(His452Arg) Unknown - likely benign g.106938638T>C g.107298193T>C COG5(NM_001161520.1):c.1355A>G (p.(His452Arg)) - DUS4L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1406_1406+5del r.(?) p.(Tyr468_Asp469del) Unknown - likely pathogenic g.106938586_106938591del - COG5(NM_006348.5):c.1313_1313+5del - DUS4L_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1509G>A r.(?) p.(Pro503=) Unknown - VUS g.106924075C>T - COG5(NM_006348.5):c.1416G>A (p.P472=) - DUS4L_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1610C>A r.(?) p.(Ala537Asp) Unknown - VUS g.106921803G>T g.107281358G>T COG5(NM_001161520.1):c.1610C>A (p.A537D) - DUS4L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1673C>T r.(?) p.(Ser558Phe) Unknown - likely benign g.106898824G>A g.107258379G>A COG5(NM_001161520.1):c.1673C>T (p.(Ser558Phe)) - DUS4L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1843-3dup r.spl? p.? Unknown - likely benign g.106888958dup - COG5(NM_006348.5):c.1750-3dup - DUS4L_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1869T>C r.(?) p.(Ala623=) Unknown - likely benign g.106888918A>G - COG5(NM_001161520.1):c.1869T>C (p.A623=) - DUS4L_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1919T>C r.(?) p.(Ile640Thr) Parent #1 - VUS g.106888868A>G g.107248423A>G - - COG5_000007 conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142433421 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
-?/. - c.1919T>C r.(?) p.(Ile640Thr) Unknown - likely benign g.106888868A>G g.107248423A>G - - COG5_000007 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.021 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1920C>T r.(=) p.(=) Parent #1 - likely benign g.106888867G>A g.107248422G>A - - COG5_000006 39 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35581984 Germline - 39/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 39 Mohammed Faruq
-?/. - c.1931A>G r.(?) p.(Gln644Arg) Unknown - likely benign g.106888856T>C - COG5(NM_006348.3):c.1931A>G (p.(Gln644Arg)) - DUS4L_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2171_2173del r.(?) p.(Ala724del) Unknown - likely pathogenic g.106876911_106876913del g.107236466_107236468del COG5(NM_001161520.1):c.2171_2173delCTG (p.A724del) - COG5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2355G>A r.(?) p.(Thr785=) Unknown - likely benign g.106851577C>T - COG5(NM_001161520.1):c.2355G>A (p.T785=) - DUS4L_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2578C>T r.(?) p.(Gln860*) Unknown - VUS g.106843966G>A - COG5(NM_006348.3):c.2578C>T (p.Q860*) - DUS4L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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