Full data view for gene POMGNT2

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_032806.5 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.-316A>C r.(?) p.(=) Unknown - benign g.43147538T>G g.43106046T>G - - POMGNT2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43C>T r.(?) p.(=) Unknown - benign g.43122966G>A g.43081474G>A - - POMGNT2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190G>A r.(?) p.(Gly64Ser) Parent #1 - VUS g.43122734C>T g.43081242C>T - - POMGNT2_000026 - PubMed: Reddy 2017 - rs548769646 Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD Fam1255 PubMed: Reddy 2017 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.238C>T r.(?) p.(Arg80Cys) Unknown - VUS g.43122686G>A - POMGNT2(NM_032806.5):c.238C>T (p.R80C) - POMGNT2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239G>A r.(?) p.(Arg80His) Unknown - likely benign g.43122685C>T g.43081193C>T POMGNT2(NM_032806.5):c.239G>A (p.R80H) - POMGNT2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.239G>A r.(?) p.(Arg80His) Both (homozygous) - VUS g.43122685C>T g.43081193C>T - - POMGNT2_000020 - PubMed: Ganapathy 2019 ClinVar-RCV000650546.1 rs146511234 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3015 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 2 c.295A>C r.(?) p.(Asn99His) Unknown ACMG likely pathogenic g.43122629T>G - - - POMGNT2_000034 - - - - Germline - - - - - DNA PCR - - MDDGA Case 38 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
-?/. - c.364G>A r.(?) p.(Val122Met) Parent #1 - likely benign g.43122560C>T g.43081068C>T - - POMGNT2_000029 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149948290 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.409G>T r.(?) p.(Ala137Ser) Unknown - VUS g.43122515C>A - POMGNT2(NM_032806.5):c.409G>T (p.(Ala137Ser)) - POMGNT2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Val152Met) Parent #1 - VUS g.43122470C>T g.43080978C>T - - POMGNT2_000028 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201114442 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
+?/. 2 c.466G>A r.(?) p.(Ala156Thr) Unknown ACMG VUS g.43122458C>T - - - POMGNT2_000033 - - - - Germline - - - - - DNA PCR - - MDDGA Case 37 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 2 c.473G>A r.(?) p.(Arg158His) Paternal (confirmed) - pathogenic g.43122451C>T g.43080959C>T - - POMGNT2_000002 detected after whole exome sequencing, homozygosity mapping (28.1 Mb) PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - WWS - - 4-generation family, 1 affected F yes Saudi Arabia - <1m - - - 1 Johan den Dunnen
+/. 2 c.473G>A r.(?) p.(Arg158His) Parent #1 - pathogenic g.43122451C>T g.43080959C>T - - POMGNT2_000002 detected after whole exome sequencing, homozygosity mapping (28.1 Mb) PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control - - 4-generation family, unaffected carier parents M;F yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. 2 c.473G>A r.(?) p.(Arg158His) Maternal (confirmed) - pathogenic g.43122451C>T g.43080959C>T - - POMGNT2_000002 detected after whole exome sequencing, homozygosity mapping (28.1 Mb) PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - WWS - - 4-generation family, 1 affected F yes Saudi Arabia - <1m - - - 1 Johan den Dunnen
+?/. 2 c.473G>A r.(?) p.(Arg158His) Both (homozygous) ACMG likely pathogenic g.43122451C>T g.43080959C>T - - POMGNT2_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDGA8 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.473G>A r.(?) p.(Arg158His) Both (homozygous) ACMG likely pathogenic g.43122451C>T g.43080959C>T - - POMGNT2_000002 ACMG PS1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 10DG2024 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.479A>G r.(?) p.(Asn160Ser) Unknown - VUS g.43122445T>C g.43080953T>C - - POMGNT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488A>G r.(?) p.(Asn163Ser) Unknown - VUS g.43122436T>C - POMGNT2(NM_032806.5):c.488A>G (p.N163S) - POMGNT2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511G>A r.(?) p.(Asp171Asn) Both (homozygous) ACMG VUS g.43122413C>T g.43080921C>T - - POMGNT2_000006 - - - rs768063378 Germline ? - - - - DNA SEQ-NG-I - - MMDD 96042 - family, 2 affected siblings M yes Syria - 08y - - - 2 Andreas Laner
?/. - c.569G>A r.(?) p.(Arg190Gln) Unknown - VUS g.43122355C>T - POMGNT2(NM_032806.6):c.569G>A (p.(Arg190Gln)) - POMGNT2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.590G>A r.(?) p.(Trp197*) Paternal (confirmed) - pathogenic g.43122334C>T g.43080842C>T - - POMGNT2_000003 GTDC2 in 7.5 Mb homozygous region suggests distant relation parents PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ - - WWS - - 2-generation family, fetus 1 F ? India - <0d - - - 1 Johan den Dunnen
+/. 2 c.590G>A r.(?) p.(Trp197*) Paternal (confirmed) - pathogenic g.43122334C>T g.43080842C>T - - POMGNT2_000003 GTDC2 in 7.5 Mb homozygous region suggests distant relation parents PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ - - WWS - - 2-generation family, fetus 2 F ? India - <0d - - - 1 Johan den Dunnen
+/. 2 c.590G>A r.(?) p.(Trp197*) Parent #1 - pathogenic g.43122334C>T g.43080842C>T - - POMGNT2_000003 - PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - - 2-generation family, unaffected carrier parents M;F ? India - - - - - 2 Johan den Dunnen
+/. 2 c.590G>A r.(?) p.(Trp197*) Maternal (confirmed) - pathogenic g.43122334C>T g.43080842C>T - - POMGNT2_000003 GTDC2 in 7.5 Mb homozygous region suggests distant relation parents PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ - - WWS - - 2-generation family, fetus 1 F ? India - <0d - - - 1 Johan den Dunnen
+/. 2 c.590G>A r.(?) p.(Trp197*) Maternal (confirmed) - pathogenic g.43122334C>T g.43080842C>T - - POMGNT2_000003 GTDC2 in 7.5 Mb homozygous region suggests distant relation parents PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ - - WWS - - 2-generation family, fetus 2 F ? India - <0d - - - 1 Johan den Dunnen
?/. 2 c.629G>T r.(?) p.(Ser210Ile) Both (homozygous) - VUS g.43122295C>A g.43080803C>A - - POMGNT2_000031 - PubMed: Ganapathy 2019 - rs561770941 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2393 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.705C>A r.(?) p.(Gly235=) Unknown - likely benign g.43122219G>T g.43080727G>T POMGNT2(NM_032806.5):c.705C>A (p.G235=) - POMGNT2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.740_741del r.(?) p.(Phe247Cysfs*16) Unknown - likely pathogenic (recessive) g.43122184_43122185del g.43080692_43080693del 740_741delAA - POMGNT2_000025 - PubMed: Reddy 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES LGMD Fam1255 PubMed: Reddy 2017 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.758C>T r.(?) p.(Pro253Leu) Both (homozygous) - pathogenic g.43122166G>A g.43080674G>A - - POMGNT2_000035 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ-NG - - NMD Pat27 PubMed: Thomas 2022 no family history - yes France - - - - - 1 Johan den Dunnen
+/. - c.880C>T r.(?) p.(Arg294Ter) Unknown - pathogenic g.43122044G>A g.43080552G>A - - POMGNT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.997C>T r.(?) p.(Arg333Trp) Unknown - VUS g.43121927G>A - POMGNT2(NM_032806.6):c.997C>T (p.(Arg333Trp)) - POMGNT2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208C>T r.(?) p.(Thr403Ile) Unknown - VUS g.43121716G>A - POMGNT2(NM_032806.6):c.1208C>T (p.(Thr403Ile)) - POMGNT2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270C>T r.(?) p.(Arg424Cys) Unknown - VUS g.43121654G>A - POMGNT2(NM_032806.5):c.1270C>T (p.R424C) - POMGNT2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286G>A r.(?) p.(Arg429His) Unknown - VUS g.43121638C>T g.43080146C>T POMGNT2(NM_032806.5):c.1286G>A (p.R429H) - POMGNT2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1305_1306del r.(?) p.(Cys436Leufs*77) Unknown - likely pathogenic g.43121621_43121622del - POMGNT2(NM_032806.6):c.1305_1306delCT (p.C436Lfs*77) - POMGNT2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1305_1306del r.(?) p.(Cys436LeufsTer77) Both (homozygous) ACMG likely pathogenic (recessive) g.43121621_43121622del g.43080129_43080130del 1305_1306delCT - POMGNT2_000038 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D21 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients F - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.1305_1306del r.(?) p.(Cys436LeufsTer77) Both (homozygous) ACMG likely pathogenic (recessive) g.43121621_43121622del g.43080129_43080130del c.1305_1306delCT - POMGNT2_000038 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D21 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) F - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1316A>C r.(?) p.(Asn439Thr) Unknown - likely benign g.43121608T>G g.43080116T>G POMGNT2(NM_032806.5):c.1316A>C (p.(Asn439Thr)) - POMGNT2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1321G>A r.(?) p.(Glu441Lys) Both (homozygous) - likely pathogenic (recessive) g.43121603C>T g.43080111C>T - - POMGNT2_000042 - PubMed: Marti 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat20 PubMed: Marti 2025 patient, no family history - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.1333C>T r.(?) p.(Arg445*) Paternal (confirmed) - pathogenic g.43121591G>A g.43080099G>A - - POMGNT2_000001 detected after whole exome sequencing, homozygosity mapping (25.8 Mb) PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - WWS - - 4-generation family, 1 affected M yes Jordan - <1m - - - 1 Johan den Dunnen
+/. 2 c.1333C>T r.(?) p.(Arg445*) Parent #1 - pathogenic g.43121591G>A g.43080099G>A - - POMGNT2_000001 - PubMed: Manzini 2012 - - Germline - - - - - DNA SEQ, SEQ-NG - - Healthy/Control - - 4-generation family, unaffected carier parents M;F yes Jordan - - - - - 2 Johan den Dunnen
+/. 2 c.1333C>T r.(?) p.(Arg445*) Maternal (confirmed) - pathogenic g.43121591G>A g.43080099G>A - - POMGNT2_000001 detected after whole exome sequencing, homozygosity mapping (25.8 Mb) - - - Germline - - - - - DNA SEQ, SEQ-NG - - WWS - - 4-generation family, 1 affected M yes Jordan - <1m - - - 1 Johan den Dunnen
+?/. 2 c.1334G>A r.(?) p.(Arg445Gln) Parent #2 - likely pathogenic g.43121590C>T g.43080098C>T - - POMGNT2_000005 - - - - Germline yes - - - - DNA SEQ - - MDDGA9 - - - - - - - - - - - 1 Céline Bouchet Seraphin
-/. - c.1365G>A r.(?) p.(Pro455=) Unknown - benign g.43121559C>T g.43080067C>T POMGNT2(NM_032806.6):c.1365G>A (p.P455=) - POMGNT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1384C>T r.(?) p.(Arg462Trp) Parent #1 - likely benign g.43121540G>A g.43080048G>A - - POMGNT2_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147175064 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1402C>T r.(?) p.(Arg468Trp) Unknown - VUS g.43121522G>A g.43080030G>A POMGNT2(NM_032806.5):c.1402C>T (p.R468W) - POMGNT2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.1471C>T r.(?) p.(Gln491*) Parent #1 - likely pathogenic g.43121453G>A g.43079961G>A - - POMGNT2_000004 - - - - Germline yes - - - - DNA SEQ - - MDDGA9 - - - - - - - - - - - 1 Céline Bouchet Seraphin
-/. - c.1488C>T r.(?) p.(Gly496=) Unknown - benign g.43121436G>A g.43079944G>A - - POMGNT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1682G>A r.(?) p.(Arg561His) Unknown - likely pathogenic g.43121242C>T - POMGNT2(NM_032806.5):c.1682G>A (p.(Arg561His)) - POMGNT2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*346A>C r.(=) p.(=) Unknown - benign g.43120835T>G g.43079343T>G - - POMGNT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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