Full data view for gene POMGNT1

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

571 entries on 6 pages. Showing entries 1 - 100.
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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.-409G>A r.(?) p.(=) Unknown - VUS g.46685735C>T g.46220063C>T LURAP1(NM_001013615.2):c.563C>T (p.(Ala188Val)) - LURAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-390T>C r.(?) p.(=) Unknown - likely benign g.46685716A>G g.46220044A>G LURAP1(NM_001013615.2):c.544A>G (p.(Arg182Gly)) - LURAP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-51G>A r.(?) p.(=) Unknown - likely benign g.46685377C>T - POMGNT1(NM_001243766.2):c.-51G>A - LURAP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_8i c.(-51+1_-50-1)_(751+1_752-1)del r.? p.0? Maternal (confirmed) - pathogenic g.(46660074_46660224)_(46663544_46685376)del - - - POMGNT1_000134 - PubMed: Saredi 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat2 PubMed: Saredi 2012 - M - Italy - 17y - - - 1 Johan den Dunnen
+/+? 2i_8i c.(-51+1_-50-1)_(751+1_752-1)del r.? p.? Parent #1 - pathogenic g.(46660074_46660224)_(46663544_46685376)del - deletion exons 2–8 - POMGNT1_000134 1 Italian MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.-11G>A r.(?) p.(=) Unknown - benign g.46663504C>T g.46197832C>T - - POMGNT1_000040 other pathogenic change in one patient PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.-11G>A r.(?) p.(=) Unknown - benign g.46663504C>T g.46197832C>T POMGNT1(NM_001243766.2):c.-11G>A - POMGNT1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.0? r.0? p.0? Both (homozygous) - likely pathogenic g.45862062_46510920dup - POMGNT1 - MMACHC_000047 heterozygous, both parents wild type; t(2;14)(q37.3;q13) with duplication in chromosome 1p34.1 PubMed: Hanemaaijer 2009 - - De novo yes - - - - DNA arrayCGH, FISH, SEQ blood - ? ? PubMed: Hanemaaijer 2009 - M - - - - - - - 1 LOVD
+/. 17i_23_ c.1539+184_*38{0} r.? p.? Unknown - pathogenic (recessive) g.46652588_46657586del g.46186916_46191914del - - POMGNT1_000113 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i_23_ c.1539+184_*38{0} r.? p.? Both (homozygous) - pathogenic g.46652588_46657586del g.46186916_46191914del 1539+184_1983+2354del4972 - POMGNT1_000113 5.0 Kb deletion exon 17-22 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - DNA arrayCGH, PCRq, SEQ - - MEB 21727005-Pat1 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Tunisia - >08y - - - 2 Johan den Dunnen
+/. 17i_23_ c.1539+261_*38{0} r.? p.? Parent #1 - pathogenic (recessive) g.46652537_46657509del g.46186865_46191837del - - POMGNT1_000062 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i_22_ c.1539+261_*38{0} r.? p.? Maternal (confirmed) - pathogenic g.46652537_46657509del g.46186865_46191837del 1539+261_1983+2405del4972 - POMGNT1_000062 5.0 Kb deletion exon 17-22 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - DNA arrayCGH, PCRq, SEQ - - MEB 21727005-Pat2 PubMed: Vuillaumier-Barrot 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Algeria;France - >08y - - - 1 Johan den Dunnen
?/. 22 c.? r.(?) p.? Parent #1 - VUS g.? - 1927T>G (F643V) - NPHS2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 22 c.? r.(?) p.? Parent #1 - VUS g.? - 1933G>C (E645Q) - NPHS2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 22 c.? r.(?) p.(Thr660Ile) Parent #1 - VUS g.? - 1979C>T (T660I) - POMGNT1_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 22 c.? r.(?) p.? Parent #1 - VUS g.? - 1933G>C (E645Q) - NPHS2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 22 c.? r.(?) p.? Parent #1 - VUS g.? - 1933G>C (E645Q) - NPHS2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.46663493T>A g.46197821T>A - - POMGNT1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.16C>T r.(?) p.(Pro6Ser) Parent #1 - VUS g.46663478G>A g.46197806G>A - - POMGNT1_000241 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.25dup r.(?) p.(Leu9Profs*20) Parent #2 - pathogenic g.46663473dup g.46197801dup 25_26insC - POMGNT1_000052 - PubMed: Hehr 2007 - - Germline - - - - - DNA SEQ - - MEB 17906881-Pat4 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - >04y - - - 1 Rosário dos Santos
+/+? 2 c.25dup r.(25dup) p.(Leu9Profs*20) Parent #1 - pathogenic g.46663473dup g.46197801dup 25_26insC - POMGNT1_000052 1 German MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38T>C r.(?) p.(Phe13Ser) Unknown - VUS g.46663456A>G g.46197784A>G POMGNT1(NM_001243766.1):c.38T>C (p.F13S) - POMGNT1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.38T>C r.(?) p.(Phe13Ser) Parent #1 - VUS g.46663456A>G g.46197784A>G - - POMGNT1_000183 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.46C>T r.(?) p.(Arg16Trp) Parent #1 - VUS g.46663448G>A g.46197776G>A - - POMGNT1_000010 - - - rs34058684 Germline - 0.01 - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.46C>T r.(?) p.(Arg16Trp) Parent #1 - VUS g.46663448G>A g.46197776G>A - - POMGNT1_000010 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.46C>T r.(?) p.(Arg16Trp) Parent #1 - VUS g.46663448G>A g.46197776G>A - - POMGNT1_000010 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.56G>A r.(?) p.(Arg19Gln) Parent #2 - VUS g.46663438C>T g.46197766C>T 667G>A;56G>A - POMGNT1_000259 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat72 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
?/. - c.73T>G r.(?) p.(Trp25Gly) Unknown - VUS g.46663421A>C - POMGNT1(NM_017739.4):c.73T>G (p.(Trp25Gly)) - LURAP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.107G>A r.(?) p.(Arg36Gln) Parent #1 - VUS g.46663387C>T g.46197715C>T - - POMGNT1_000240 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2i c.120+3A>G r.spl? p.? Parent #1 - VUS g.46663371T>C g.46197699T>C - - POMGNT1_000239 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.120+13C>T r.(=) p.(=) Unknown - likely benign g.46663361G>A g.46197689G>A POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120+13C>T r.(=) p.(=) Unknown - likely benign g.46663361G>A g.46197689G>A POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120+13C>T r.(=) p.(=) Unknown - likely benign g.46663361G>A g.46197689G>A POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120+13C>T r.(=) p.(=) Unknown - likely benign g.46663361G>A - POMGNT1(NM_001243766.1):c.120+13C>T (p.(=)), POMGNT1(NM_001243766.2):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.121-278A>G r.(=) p.(=) Unknown - benign g.46663034T>C g.46197362T>C POMGNT1(NM_001290129.2):c.-1A>G - LURAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121-228A>G r.(=) p.(=) Unknown - likely benign g.46662984T>C - POMGNT1(NM_001290129.2):c.50A>G (p.(His17Arg)) - LURAP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.172A>G r.(?) p.(Ile58Val) Parent #1 - VUS g.46662705T>C g.46197033T>C - - POMGNT1_000238 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.187C>T r.(?) p.(Arg63Ter) Unknown - pathogenic g.46662690G>A g.46197018G>A POMGNT1(NM_001243766.2):c.187C>T (p.R63*), POMGNT1(NM_017739.3):c.187C>T (p.R63*) - POMGNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.187C>T r.(?) p.(Arg63Ter) Unknown - likely pathogenic g.46662690G>A g.46197018G>A POMGNT1(NM_001243766.2):c.187C>T (p.R63*), POMGNT1(NM_017739.3):c.187C>T (p.R63*) - POMGNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.187C>T r.(?) p.(Arg63*) Parent #1 - pathogenic g.46662690G>A g.46197018G>A - - POMGNT1_000009 - PubMed: Taniguchi 2003, OMIM:var0009 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Taniguchi 2003 - F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.187C>T r.(?) p.(Arg63*) Parent #2 - pathogenic g.46662690G>A g.46197018G>A - - POMGNT1_000009 - PubMed: Taniguchi 2003, OMIM:var0009 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Taniguchi 2003 - F - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.187C>T r.(?) p.(Arg63*) Both (homozygous) - pathogenic g.46662690G>A g.46197018G>A 281C>T (R63X) - POMGNT1_000076 - PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 19299310-Pat34 PubMed: Mercuri 2009 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.187C>T r.(?) p.(Arg63*) Parent #1 - pathogenic (recessive) g.46662690G>A g.46197018G>A - - POMGNT1_000009 - PubMed: Xu 2016, PubMed: Xu 2016 - - Germline yes 1/309 unresolved RP cases - - - DNA SEQ, SEQ-NG - WES retinal disease Fam1PatMOGL2063 PubMed: Xu 2016, PubMed: Xu 2016 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier relative M - (Canada) Italy - - - - 2 Johan den Dunnen
+/. - c.187C>T r.(?) p.(Arg63*) Parent #1 - pathogenic (recessive) g.46662690G>A g.46197018G>A - - POMGNT1_000009 - PubMed: Xu 2016, PubMed: Xu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease Fam1PatMOGL2064 PubMed: Xu 2016, PubMed: Xu 2016 older sister F - (Canada) Italy - - - - 1 Johan den Dunnen
+/. - c.187C>T r.(?) p.(Arg63Ter) Parent #2 - pathogenic (recessive) g.46662690G>A g.46197018G>A - - POMGNT1_000009 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat67 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.187C>T r.(?) p.(Arg63*) Parent #1 - pathogenic g.46662690G>A - c.187C>T - POMGNT1_000009 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-/. 3i c.235+33T>G r.(?) p.(=) Unknown - benign g.46662609A>C g.46196937A>C - - POMGNT1_000041 found in several patients PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 3i c.235+33T>G r.(?) p.(=) Unknown - benign g.46662609A>C g.46196937A>C - - POMGNT1_000041 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.236-16C>G r.(=) p.(=) Unknown - benign g.46662537G>C g.46196865G>C POMGNT1(NM_017739.3):c.236-16C>G - POMGNT1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236-13T>C r.(=) p.(=) Unknown - likely benign g.46662534A>G g.46196862A>G POMGNT1(NM_017739.3):c.236-13T>C - POMGNT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.236-13T>C r.(?) p.(=) Unknown - VUS g.46662534A>G g.46196862A>G - - POMGNT1_000065 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.244C>G r.(?) p.(Leu82Val) Unknown ACMG VUS g.46662513G>C g.46196841G>C POMGNT1 c.244C>G, p.(Leu82Val) - POMGNT1_000274 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 10_11 PubMed: Zhu 2022 family 10, individual 11 F - - - - - - - 1 LOVD
?/. 4 c.244C>T r.(?) p.(=) Parent #1 - VUS g.46662513G>A g.46196841G>A - - POMGNT1_000059 - - - rs34212808 Germline - 0.34 - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>A r.(?) p.(Arg84His) Unknown - VUS g.46662506C>T - POMGNT1(NM_001243766.1):c.251G>A (p.R84H) - LURAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>T r.(?) p.(Arg84Leu) Unknown - VUS g.46662506C>A - POMGNT1(NM_001243766.1):c.251G>T (p.(Arg84Leu)) - LURAP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.266G>A r.(?) p.(Arg89Gln) Parent #1 - VUS g.46662491C>T g.46196819C>T - - POMGNT1_000237 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.268C>T r.(?) p.(Arg90Cys) Parent #1 - VUS g.46662489G>A g.46196817G>A - - POMGNT1_000236 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.269G>A r.(?) p.(Arg90His) Parent #1 - VUS g.46662488C>T g.46196816C>T - - POMGNT1_000235 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.275G>T r.(?) p.(Gly92Val) Unknown - VUS g.46662482C>A - POMGNT1(NM_001243766.1):c.275G>T (p.G92V) - POMGNT1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.286C>T r.(?) p.(Arg96Trp) Parent #1 - VUS g.46662471G>A g.46196799G>A - - POMGNT1_000234 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.296T>C r.(?) p.(Leu99Pro) Maternal (confirmed) - pathogenic g.46662461A>G g.46196789A>G - - POMGNT1_000156 - PubMed: Fu 2017 - - Germline - - - - - DNA SEQ-NG - - MEB 28765568-Pat2 PubMed: Xu 2017 - - - China - - - - - 1 Xiaona Fu
+/. - c.296T>C r.(?) p.(Leu99Pro) Parent #1 - pathogenic (recessive) g.46662461A>G g.46196789A>G - - POMGNT1_000156 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat65 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. - c.296T>C r.(?) p.(Leu99Pro) Parent #1 - pathogenic (recessive) g.46662461A>G g.46196789A>G - - POMGNT1_000156 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat67 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.301G>A r.(?) p.(Val101Ile) Unknown - likely benign g.46662456C>T g.46196784C>T POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I) - POMGNT1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301G>A r.(?) p.(Val101Ile) Unknown - likely benign g.46662456C>T g.46196784C>T POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I) - POMGNT1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301G>A r.(?) p.(Val101Ile) Unknown - likely benign g.46662456C>T g.46196784C>T POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I) - POMGNT1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301G>A r.(?) p.(Val101Ile) Unknown - benign g.46662456C>T - POMGNT1(NM_001243766.1):c.301G>A (p.V101I), POMGNT1(NM_001243766.2):c.301G>A (p.V101I) - POMGNT1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.304G>T r.(?) p.(Glu102Ter) Parent #1 ACMG pathogenic (recessive) g.46662453C>A g.46196781C>A - - POMGNT1_000272 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Cyprus Greece - - - - 1 Johan den Dunnen
+/. 4 c.304G>T r.(?) p.(Glu102Ter) Parent #1 ACMG pathogenic (recessive) g.46662453C>A g.46196781C>A - - POMGNT1_000272 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Cyprus Greece - - - - 1 Johan den Dunnen
-?/. - c.333T>C r.(?) p.(Tyr111=) Unknown - likely benign g.46662424A>G - POMGNT1(NM_001243766.1):c.333T>C (p.Y111=) - LURAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.351del r.(?) p.(Thr118Argfs*26) Paternal (confirmed) - pathogenic g.46662407del g.46196735del 350delC - POMGNT1_000196 - PubMed: Saredi 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat2 PubMed: Saredi 2012 - M - Italy - 17y - - - 1 Johan den Dunnen
+/. 4 c.351del r.(?) p.(Thr118Argfs*26) Paternal (confirmed) - pathogenic g.46662407del g.46196735del 350delC - POMGNT1_000196 - PubMed: Saredi 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat3 PubMed: Saredi 2012 - F - Italy - - - - - 1 Johan den Dunnen
+/+? 4 c.351del r.(351del) p.(Thr118Argfs*26) Parent #1 - pathogenic g.46662407del g.46196735del 350delC - POMGNT1_000196 2 Italian MDDGA3 (MEB) patients (both com-het) and 1 MDDGA3 (MEB) patient (com-het) with unknown ethnicity - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.351del r.(?) p.(Thr118Argfs*26) Parent #1 - pathogenic g.46662407del g.46196735del 350delC - POMGNT1_000075 - PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 19299310-Pat32 PubMed: Mercuri 2009 - - - Italy - - - - - 1 Johan den Dunnen
+/. 4 c.351del r.(?) p.(Thr118Argfs*26) Unknown - pathogenic (recessive) g.46662406del - POMGNT1:c.351del - POMGNT1_000075 - PubMed: Colombo-2020 - rs386834028 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
-/. 4i c.355-27C>T r.(?) p.(=) Unknown - benign g.46661776G>A g.46196104G>A - - POMGNT1_000042 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 4i c.355-27C>T r.(?) p.(=) Unknown - benign g.46661776G>A g.46196104G>A - - POMGNT1_000042 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/. 5 c.358C>G r.(?) p.(Leu120Val) Parent #1 - VUS g.46661746G>C g.46196074G>C - - POMGNT1_000233 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 4 c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R - POMGNT1_000256 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F17-II-4 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. 4 c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R - POMGNT1_000256 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F18-II-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-01 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-03 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-04 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F01-05 PubMed: Wang 2016 family 01; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-01 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-04 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-08 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-12 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-13 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F02-15 PubMed: Wang 2016 family 02; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F03-02 PubMed: Wang 2016 family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F03-03 PubMed: Wang 2016 family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F03-05 PubMed: Wang 2016 family 03; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F04-01 PubMed: Wang 2016 family 04; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F04-03 PubMed: Wang 2016 family 04; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F05-01 PubMed: Wang 2016 family 05; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago M likely Taiwan - - - - - 1 LOVD
+?/. - c.359T>G r.(?) p.(Leu120Arg) Both (homozygous) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1 c.359T>G, p.Leu120Arg - POMGNT1_000256 homozygous PubMed: Wang 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG blood homozygosity mapping and whole-genome sequencing retinal disease F05-05 PubMed: Wang 2016 family 05; small island off the southeastern coast of Taiwan, ethnic minority group who migrated to the island from the Batan Archipelago 800 years ago F likely Taiwan - - - - - 1 LOVD
+?/. 5 c.385C>T r.(?) p.(Arg129Trp) Parent #2 ACMG likely pathogenic (dominant) g.46661719G>A g.46196047G>A - - POMGNT1_000271 ACMG PM1, PM2, PM3, PP2, PP3, PP4 PubMed: Kritioti 2021 - rs375431575 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Cyprus Greece - - - - 1 Johan den Dunnen
+?/. 5 c.385C>T r.(?) p.(Arg129Trp) Parent #2 ACMG likely pathogenic (dominant) g.46661719G>A g.46196047G>A - - POMGNT1_000271 ACMG PM1, PM2, PM3, PP2, PP3, PP4 PubMed: Kritioti 2021 - rs375431575 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat7 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Cyprus Greece - - - - 1 Johan den Dunnen
+?/. - c.385C>T r.(?) p.(Arg129Trp) Maternal (confirmed) - likely pathogenic g.46661719G>A g.46196047G>A POMGNT1 c.385C > T (p.Arg129Trp) - POMGNT1_000271 heterozygous PubMed: Borisovna 2019 - - Germline yes - - - - DNA ? - retrospective case series MDDGA3;MEB;WWS ? PubMed: Borisovna 2019 - M - - - - - - - 1 LOVD
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