Full data view for gene MOGS

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_006302.2 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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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.12C>G r.(?) p.(Gly4=) Unknown - likely benign g.74692363G>C g.74465236G>C MOGS(NM_006302.3):c.12C>G (p.G4=) - INO80B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12C>G r.(?) p.(Gly4=) Unknown - likely benign g.74692363G>C g.74465236G>C MOGS(NM_006302.3):c.12C>G (p.G4=) - INO80B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65C>A r.(?) p.(Ala22Glu) Unknown - likely benign g.74692310G>T g.74465183G>T MOGS(NM_006302.2):c.65C>A (p.(Ala22Glu)) - MOGS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.65C>A r.(?) p.(Ala22Glu) Parent #1 - pathogenic (recessive) g.74692310G>T g.74465183G>T - - MOGS_000004 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat1 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.65C>A r.(?) p.(Ala22Glu) Parent #1 - pathogenic (recessive) g.74692310G>T g.74465183G>T - - MOGS_000004 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat2 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.65C>A r.[352_353ins352+1_353-1,=] p.[Leu119fs,=] Paternal (confirmed) - pathogenic (recessive) g.74692310G>T - - - MOGS_000004 variant generates exonic splicing silencer PubMed: Sadat 2014 - - Germline - - - - - DNA RT-PCR, SEQ - - CDG FamPat1/2 PubMed: Sadat 2014 2-generation family, affected brother/sister unaffected heterozygous carrier parents F;M - United States - - - - - 2 Johan den Dunnen
-?/. - c.184G>A r.(?) p.(Val62Met) Unknown - likely benign g.74692191C>T g.74465064C>T MOGS(NM_006302.2):c.184G>A (p.(Val62Met)) - INO80B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.224A>C r.(?) p.(His75Pro) Parent #1 - pathogenic (recessive) g.74692151T>G g.74465024T>G - - MOGS_000031 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat12 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.329G>A r.(?) p.(Arg110His) Parent #2 - pathogenic (recessive) g.74692046C>T g.74464919C>T - - MOGS_000006 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat1 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.329G>A r.(?) p.(Arg110His) Parent #2 - pathogenic (recessive) g.74692046C>T g.74464919C>T - - MOGS_000006 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat2 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
?/. - c.329G>A r.329g>a p.Arg110His Paternal (confirmed) - VUS g.74692046C>T - - - MOGS_000006 protein reported to be rapidly degraded by proteasome PubMed: Sadat 2014 - - Germline - - - - - DNA RT-PCR, SEQ - - CDG FamPat1/2 PubMed: Sadat 2014 2-generation family, affected brother/sister unaffected heterozygous carrier parents F;M - United States - - - - - 2 Johan den Dunnen
+/. - c.370C>T r.(?) p.(Gln124Ter) Parent #1 - pathogenic (recessive) g.74691832G>A g.74464705G>A - - MOGS_000005 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat5 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 3m15d - - - 1 Johan den Dunnen
+/. - c.370C>T r.(?) p.(Gln124*) Maternal (confirmed) - pathogenic (recessive) g.74691832G>A - - - MOGS_000005 - PubMed: Sadat 2014 - - Germline yes - - - - DNA RT-PCR, SEQ - - CDG FamPat1/2 PubMed: Sadat 2014 2-generation family, affected brother/sister unaffected heterozygous carrier parents F;M - United States - - - - - 2 Johan den Dunnen
?/. - c.407C>T r.(?) p.(Thr136Met) Unknown - VUS g.74691795G>A - MOGS(NM_006302.3):c.407C>T (p.(Thr136Met)) - INO80B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418G>A r.(?) p.(Gly140Arg) Unknown - VUS g.74691784C>T - MOGS(NM_006302.3):c.418G>A (p.(Gly140Arg)) - INO80B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436T>G r.(?) p.(Tyr146Asp) Unknown - VUS g.74691766A>C - MOGS(NM_006302.3):c.436T>G (p.Y146D) - INO80B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.480_481del r.(?) p.(Ile161ProfsTer10) Unknown - pathogenic g.74691724_74691725del g.74464597_74464598del MOGS(NM_006302.3):c.480_481delCA (p.I161Pfs*10) - INO80B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525G>A r.(?) p.(Arg175=) Unknown - likely benign g.74691677C>T g.74464550C>T MOGS(NM_006302.3):c.525G>A (p.R175=) - INO80B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.544G>A r.(?) p.(Gly182Arg) Paternal (confirmed) - likely pathogenic (recessive) g.74691658C>T g.74464531C>T - - MOGS_000030 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat1 PubMed: Li 2019 2-generation family, affected sisters, unaffected heterozygous carrier parents F - China - 9m - - - 2 Johan den Dunnen
+?/. - c.544G>A r.(?) p.(Gly182Arg) Paternal (confirmed) - likely pathogenic (recessive) g.74691658C>T g.74464531C>T - - MOGS_000030 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat2 PubMed: Li 2019 sister F - China - 10m - - - 1 Johan den Dunnen
-?/. - c.870_871insCCTG r.(?) p.(Gly291ProfsTer6) Unknown - likely benign g.74690045_74690046insCAGG g.74462918_74462919insCAGG MOGS(NM_001146158.1):c.552_553insCCTG (p.(Gly185ProfsTer6)) - INO80B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.882del r.(?) p.(Glu295AsnfsTer10) Parent #1 - pathogenic (recessive) g.74690034del g.74462907del 882delT - MOGS_000029 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - CDG Pat6 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
-?/. - c.894C>T r.(?) p.(Leu298=) Unknown - likely benign g.74690022G>A - MOGS(NM_006302.3):c.894C>T (p.L298=) - INO80B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1000T>G r.(?) p.(Phe334Val) Unknown - likely benign g.74689916A>C - MOGS(NM_006302.3):c.1000T>G (p.F334V) - INO80B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109A>G r.(?) p.(Glu370Gly) Unknown - likely benign g.74689807T>C - MOGS(NM_006302.3):c.1109A>G (p.E370G) - INO80B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197T>C r.(?) p.(Leu399=) Unknown - likely benign g.74689719A>G - MOGS(NM_006302.3):c.1197T>C (p.L399=) - INO80B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1212_1239dup r.(?) p.(Asp414LeufsTer17) Parent #1 - pathogenic (recessive) g.74689678_74689705dup g.74462551_74462578dup - - MOGS_000028 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat11 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1212_1239dup r.(?) p.(Asp414LeufsTer17) Maternal (confirmed) - pathogenic (recessive) g.74689678_74689705dup g.74462551_74462578dup 1239_1267dup (Asp414Leufs*17) - MOGS_000028 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat1 PubMed: Li 2019 2-generation family, affected sisters, unaffected heterozygous carrier parents F - China - 9m - - - 2 Johan den Dunnen
+/. - c.1212_1239dup r.(?) p.(Asp414LeufsTer17) Maternal (confirmed) - pathogenic (recessive) g.74689678_74689705dup g.74462551_74462578dup 1239_1267dup (Asp414Leufs*17) - MOGS_000028 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat2 PubMed: Li 2019 sister F - China - 10m - - - 1 Johan den Dunnen
-/. - c.1245C>G r.(?) p.(Ile415Met) Unknown - benign g.74689671G>C - MOGS(NM_006302.3):c.1245C>G (p.I415M) - INO80B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1248_1249insT r.(?) p.(Val417Cysfs*5) Unknown - VUS g.74689667_74689668insA - MOGS(NM_006302.2):c.1248_1249insT (p.(Val417fs)) - INO80B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1252del r.(?) p.(Glu418Lysfs*61) Unknown - VUS g.74689665del - MOGS(NM_006302.2):c.1252delG (p.(Glu418fs)) - INO80B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1286_1287del r.(?) p.(Phe429SerfsTer23) Parent #2 - pathogenic (recessive) g.74689630_74689631del g.74462503_74462504del 1286-1287del - MOGS_000027 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat12 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1348T>G r.(?) p.(Trp450Gly) Parent #2 - pathogenic (recessive) g.74689568A>C g.74462441A>C - - MOGS_000026 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat11 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1457G>A r.(?) p.(Arg486Thr) Maternal (confirmed) - pathogenic (recessive) g.74689459C>G g.74462332C>G 1587G>C (Arg486Thr) - MOGS_000025 - PubMed: De Praeter 2000 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: De Praeter 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Belgium - 74d - - - 1 Johan den Dunnen
+/. - c.1461G>C r.(?) p.(Glu487Asp) Both (homozygous) - pathogenic (recessive) g.74689455C>G g.74462328C>G - - MOGS_000024 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat8 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
+/. - c.1461G>C r.(?) p.(Glu487Asp) Parent #2 - pathogenic (recessive) g.74689455C>G g.74462328C>G - - MOGS_000024 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat5 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - 3m15d - - - 1 Johan den Dunnen
?/. - c.1472G>T r.(?) p.(Gly491Val) Unknown - VUS g.74689444C>A - MOGS(NM_006302.3):c.1472G>T (p.G491V) - INO80B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1483C>T r.(?) p.(Arg495Ter) Paternal (confirmed) - pathogenic (recessive) g.74689433G>A g.74462306G>A - - MOGS_000023 - PubMed: Ota 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Ota 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - 1y - - - 1 Johan den Dunnen
+/. - c.1483C>T r.(?) p.(Arg495Ter) Maternal (confirmed) - pathogenic (recessive) g.74689433G>A g.74462306G>A - - MOGS_000023 - PubMed: Anzai 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat1 PubMed: Anzai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Johan den Dunnen
+/. - c.1514_1516del r.(?) p.(Gln505del) Paternal (confirmed) - pathogenic (recessive) g.74689402_74689404del g.74462275_74462277del - - MOGS_000022 - PubMed: Anzai 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat1 PubMed: Anzai 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Johan den Dunnen
+/. - c.1514_1516del r.(?) p.(Gln505del) Paternal (confirmed) - pathogenic (recessive) g.74689402_74689404del g.74462275_74462277del - - MOGS_000022 - PubMed: Anzai 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat2 PubMed: Anzai 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Japan - 9m - - - 2 Johan den Dunnen
+/. - c.1514_1516del r.(?) p.(Gln505del) Paternal (confirmed) - pathogenic (recessive) g.74689402_74689404del g.74462275_74462277del - - MOGS_000022 - PubMed: Anzai 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat3 PubMed: Anzai 2021 brother M no Japan - 9y - - - 1 Johan den Dunnen
+/. - c.1537C>T r.(?) p.(Pro513Ser) Parent #1 - pathogenic (recessive) g.74689379G>A g.74462252G>A - - MOGS_000021 - PubMed: Lo Barco 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Lo Barco 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.1581C>A r.(?) p.(Asp527Glu) Unknown - likely benign g.74689335G>T - MOGS(NM_006302.3):c.1581C>A (p.D527E, p.(Asp527Glu)) - INO80B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1581C>A r.(?) p.(Asp527Glu) Unknown - likely benign g.74689335G>T - MOGS(NM_006302.3):c.1581C>A (p.D527E, p.(Asp527Glu)) - INO80B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1603C>T r.(?) p.(Arg535Ter) Parent #2 - pathogenic (recessive) g.74689313G>A g.74462186G>A - - MOGS_000020 - PubMed: Kim 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Kim 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - 4m - - - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Ter) Maternal (confirmed) - pathogenic (recessive) g.74689313G>A g.74462186G>A - - MOGS_000020 - PubMed: Anzai 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat2 PubMed: Anzai 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Japan - 9m - - - 2 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535Ter) Maternal (confirmed) - pathogenic (recessive) g.74689313G>A g.74462186G>A - - MOGS_000020 - PubMed: Anzai 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat3 PubMed: Anzai 2021 brother M no Japan - 9y - - - 1 Johan den Dunnen
+/. - c.1619G>A r.(?) p.(Arg540His) Parent #1 - pathogenic (recessive) g.74689297C>T g.74462170C>T - - MOGS_000019 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat9 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.1619G>A r.(?) p.(Arg540His) Maternal (confirmed) - pathogenic (recessive) g.74689297C>T g.74462170C>T - - MOGS_000019 - PubMed: Zhao 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+/. - c.1681C>T r.(?) p.(Arg561Cys) Parent #2 - pathogenic (recessive) g.74689235G>A g.74462108G>A - - MOGS_000018 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - CDG Pat6 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1694G>A r.(?) p.(Arg565Gln) Paternal (confirmed) - pathogenic (recessive) g.74689222C>T g.74462095C>T - - MOGS_000017 - PubMed: Zhao 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
?/. - c.1698C>A r.(?) p.(Asp566Glu) Unknown - VUS g.74689218G>T - MOGS(NM_006302.3):c.1698C>A (p.D566E) - MOGS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1698C>A r.(?) p.(Asp566Glu) Paternal (confirmed) - likely pathogenic (recessive) g.74689218G>T g.74462091G>T - - MOGS_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat1 PubMed: Li 2019 2-generation family, affected sisters, unaffected heterozygous carrier parents F - China - 9m - - - 2 Johan den Dunnen
+?/. - c.1698C>A r.(?) p.(Asp566Glu) Paternal (confirmed) - likely pathogenic (recessive) g.74689218G>T g.74462091G>T - - MOGS_000003 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG FamPat2 PubMed: Li 2019 sister F - China - 10m - - - 1 Johan den Dunnen
+/. - c.1766C>T r.(?) p.(Ser589Leu) Both (homozygous) - pathogenic (recessive) g.74689150G>A g.74462023G>A - - MOGS_000016 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat7 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.1787G>A r.(?) p.(Arg596Gln) Parent #1 - pathogenic (recessive) g.74689129C>T g.74462002C>T - - MOGS_000015 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat3 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1801C>T r.(?) p.(Arg601Ter) Parent #2 - pathogenic (recessive) g.74689115G>A g.74461988G>A - - MOGS_000014 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat3 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
-?/. - c.1944G>A r.(?) p.(Glu648=) Unknown - likely benign g.74688972C>T - MOGS(NM_006302.3):c.1944G>A (p.E648=) - INO80B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1954T>C r.(?) p.(Phe652Leu) Paternal (confirmed) - pathogenic (recessive) g.74688962A>G g.74461835A>G 2085T>C (Phe652Leu) - MOGS_000013 - PubMed: De Praeter 2000 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: De Praeter 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Belgium - 74d - - - 1 Johan den Dunnen
-?/. - c.2055T>C r.(?) p.(Tyr685=) Unknown - likely benign g.74688861A>G g.74461734A>G MOGS(NM_006302.3):c.2055T>C (p.Y685=) - INO80B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2062G>A r.(?) p.(Ala688Thr) Unknown - VUS g.74688854C>T g.74461727C>T - - MOGS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2090T>C r.(?) p.(Leu697Ser) Both (homozygous) - pathogenic (recessive) g.74688826A>G g.74461699A>G - - MOGS_000012 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat10 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
+/. - c.2098C>T r.(?) p.(Arg700Ter) Both (homozygous) - pathogenic (recessive) g.74688818G>A g.74461691G>A - - MOGS_000011 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ - targeted array CDG Pat4 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
+/. - c.2126T>C r.(?) p.(Leu709Pro) Parent #2 - pathogenic (recessive) g.74688790A>G g.74461663A>G - - MOGS_000010 - PubMed: Shimada 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG Pat9 PubMed: Shimada 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.2255G>A r.(?) p.(Gly752Asp) Maternal (confirmed) - pathogenic (recessive) g.74688661C>T g.74461534C>T - - MOGS_000009 - PubMed: Ota 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Ota 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - 1y - - - 1 Johan den Dunnen
-?/. - c.2372T>C r.(?) p.(Val791Ala) Unknown - likely benign g.74688544A>G g.74461417A>G MOGS(NM_001146158.1):c.2054T>C (p.(Val685Ala)) - INO80B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2389C>T r.(?) p.(Arg797Cys) Unknown - VUS g.74688527G>A - MOGS(NM_006302.3):c.2389C>T (p.R797C) - INO80B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2405C>T r.(?) p.(Thr802Ile) Parent #1 - pathogenic (recessive) g.74688511G>A g.74461384G>A - - MOGS_000008 - PubMed: Kim 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Kim 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea - 4m - - - 1 Johan den Dunnen
+/. - c.2471G>A r.(?) p.(Gly824Asp) Parent #2 - pathogenic (recessive) g.74688445C>T g.74461318C>T - - MOGS_000007 - PubMed: Lo Barco 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CDG patient PubMed: Lo Barco 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
?/. - c.*1569C>T r.(=) p.(=) Unknown - VUS g.74686833G>A - WBP1(NM_012477.3):c.133G>A (p.(Gly45Arg)) - INO80B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1626C>G r.(=) p.(=) Unknown - VUS g.74686776G>C - WBP1(NM_012477.3):c.76G>C (p.(Glu26Gln)) - INO80B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3731G>T r.(=) p.(=) Unknown - likely benign g.74684671C>A - INO80B(NM_031288.4):c.751C>A (p.R251=) - INO80B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3911G>A r.(=) p.(=) Unknown - VUS g.74684491C>T - INO80B(NM_031288.4):c.571C>T (p.P191S) - INO80B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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