Unique variants in the POMGNT1 gene

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.

200 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 4 22 c.? r.(?) p.? - VUS g.? - 1927T>G (F643V), 1933G>C (E645Q) - NPHS2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.-409G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.-390T>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
+/+?, +/. 2 1i_8i, 2i_8i c.(-51+1_-50-1)_(751+1_752-1)del r.? p.0?, p.? - pathogenic g.(46660074_46660224)_(46663544_46685376)del - deletion exons 2–8 - POMGNT1_000134 1 Italian MDDGA3 (MEB) patient (com-het) PubMed: Saredi 2012 - - Germline, SUMMARY record - - - - - Johan den Dunnen
-/. 2 2 c.-11G>A r.(?) p.(=) - benign g.46663504C>T g.46197832C>T POMGNT1(NM_001243766.1):c.-11G>A - POMGNT1_000040 other pathogenic change in one patient, VKGL data sharing initiative Nederland PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 22 c.? r.(?) p.(Thr660Ile) - VUS g.? - 1979C>T (T660I) - POMGNT1_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.1A>T r.(?) p.(Met1?) - pathogenic g.46663493T>A g.46197821T>A - - POMGNT1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 2 c.16C>T r.(?) p.(Pro6Ser) - VUS g.46663478G>A g.46197806G>A - - POMGNT1_000241 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/+?, +/. 2 2 c.25dup r.(25dup), r.(?) p.(Leu9Profs*20) - pathogenic g.46663473dup g.46197801dup 25_26insC - POMGNT1_000052 1 German MDDGA3 (MEB) patient (com-het) PubMed: Hehr 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Rosário dos Santos
?/. 2 2 c.38T>C r.(?) p.(Phe13Ser) - VUS g.46663456A>G g.46197784A>G POMGNT1(NM_017739.3):c.38T>C (p.F13S) - POMGNT1_000183 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
?/. 3 2 c.46C>T r.(?) p.(Arg16Trp) - VUS g.46663448G>A g.46197776G>A - - POMGNT1_000010 no second variant PubMed: Nallamilli 2018 - rs34058684 Germline - 0.01 - - - Johan den Dunnen, Madhuri Hegde
?/. 1 2 c.107G>A r.(?) p.(Arg36Gln) - VUS g.46663387C>T g.46197715C>T - - POMGNT1_000240 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2i c.120+3A>G r.spl? p.? - VUS g.46663371T>C g.46197699T>C - - POMGNT1_000239 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 2 - c.120+13C>T r.(=) p.(=) - likely benign g.46663361G>A g.46197689G>A POMGNT1(NM_001243766.1):c.120+13C>T, POMGNT1(NM_017739.3):c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.121-278A>G r.(=) p.(=) - benign g.46663034T>C g.46197362T>C POMGNT1(NM_001290129.1):c.-1A>G - LURAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 3 c.172A>G r.(?) p.(Ile58Val) - VUS g.46662705T>C g.46197033T>C - - POMGNT1_000238 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 7 3, 4 c.187C>T r.(?) p.(Arg63*), p.(Arg63Ter) - likely pathogenic, pathogenic, pathogenic (recessive) g.46662690G>A g.46197018G>A 281C>T (R63X), 1 more item - POMGNT1_000009, POMGNT1_000076 VKGL data sharing initiative Nederland PubMed: Mercuri 2009, PubMed: Taniguchi 2003, OMIM:var0009, PubMed: Xu 2016, PubMed: Xu 2016 - - CLASSIFICATION record, Germline yes 1/309 unresolved RP cases - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 2 3i c.235+33T>G r.(?) p.(=) - benign g.46662609A>C g.46196937A>C - - POMGNT1_000041 found in several patients from website {DBsub-Emory}, PubMed: Godfrey 2007 - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
-/. 1 - c.236-16C>G r.(=) p.(=) - benign g.46662537G>C g.46196865G>C POMGNT1(NM_017739.3):c.236-16C>G - POMGNT1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 3i c.236-13T>C r.(=), r.(?) p.(=) - likely benign, VUS g.46662534A>G g.46196862A>G POMGNT1(NM_017739.3):c.236-13T>C - POMGNT1_000065 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
?/. 1 4 c.244C>T r.(?) p.(=) - VUS g.46662513G>A g.46196841G>A - - POMGNT1_000059 - - - rs34212808 Germline - 0.34 - - - Johan den Dunnen
?/. 1 - c.251G>A r.(?) p.(Arg84His) - VUS g.46662506C>T - POMGNT1(NM_001243766.1):c.251G>A (p.R84H) - LURAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.266G>A r.(?) p.(Arg89Gln) - VUS g.46662491C>T g.46196819C>T - - POMGNT1_000237 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.268C>T r.(?) p.(Arg90Cys) - VUS g.46662489G>A g.46196817G>A - - POMGNT1_000236 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.269G>A r.(?) p.(Arg90His) - VUS g.46662488C>T g.46196816C>T - - POMGNT1_000235 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.275G>T r.(?) p.(Gly92Val) - VUS g.46662482C>A - POMGNT1(NM_001243766.1):c.275G>T (p.G92V) - POMGNT1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 4 c.286C>T r.(?) p.(Arg96Trp) - VUS g.46662471G>A g.46196799G>A - - POMGNT1_000234 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.296T>C r.(?) p.(Leu99Pro) - pathogenic g.46662461A>G g.46196789A>G - - POMGNT1_000156 - PubMed: Xu 2017 - - Germline - - - - - Xiaona Fu
-?/. 3 - c.301G>A r.(?) p.(Val101Ile) - likely benign g.46662456C>T g.46196784C>T POMGNT1(NM_001243766.1):c.301G>A (p.V101I) - POMGNT1_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.333T>C r.(?) p.(Tyr111=) - likely benign g.46662424A>G - POMGNT1(NM_001243766.1):c.333T>C (p.Y111=) - LURAP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, +/. 4 4 c.351del r.(351del), r.(?) p.(Thr118Argfs*26) - pathogenic g.46662407del g.46196735del 350delC - POMGNT1_000075, POMGNT1_000196 1 more item PubMed: Mercuri 2009, PubMed: Saredi 2012 - - Germline, SUMMARY record - - - - - Johan den Dunnen
-/. 2 4i c.355-27C>T r.(?) p.(=) - benign g.46661776G>A g.46196104G>A - - POMGNT1_000042 found in one patient from website {DBsub-Emory}, PubMed: Godfrey 2007 - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
?/. 1 5 c.358C>G r.(?) p.(Leu120Val) - VUS g.46661746G>C g.46196074G>C - - POMGNT1_000233 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 2 4 c.359T>G r.(?) p.(Leu120Arg) - likely pathogenic g.46661745A>C g.46196073A>C POMGNT1:NM_001290129:exon4:c.359T>G:p.L120R - POMGNT1_000256 homozygous PubMed: Chen 2020 - - Germline ? - - - - LOVD
+?/. 1 - c.386G>A r.(?) p.(Arg129Gln) ACMG likely pathogenic (recessive) g.46661718C>T - - - POMGNT1_000254 ACMG PM1, PM2, PP2, PP3, PP4 PubMed: Mohammadi 2021 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.387G>A r.(?) p.(Arg129=) - likely benign g.46661717C>T g.46196045C>T POMGNT1(NM_001243766.1):c.387G>A (p.R129=) - LURAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 5 c.418A>G r.(?) p.(Thr140Ala) - VUS g.46661686T>C g.46196014T>C - - POMGNT1_000232 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.419C>T r.(?) p.(Thr140Met) - VUS g.46661685G>A g.46196013G>A POMGNT1(NM_017739.3):c.419C>T (p.T140M) - LURAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5i_6 c.421-29_452del r.spl p.? - pathogenic g.46661571_46661631del g.46195899_46195959del 421-29_452del61 - POMGNT1_000049 - PubMed: Bouchet 2007 - - Germline yes - - - - Johan den Dunnen
-?/., ?/. 2 5i c.421-7C>A r.(=), r.spl p.(=) - likely benign, VUS g.46661603G>T g.46195931G>T POMGNT1(NM_001243766.1):c.421-7C>A - POMGNT1_000231 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/+?, +/. 2 6 c.447del r.(447del), r.(?) p.(Phe149Leufs*19) - pathogenic g.46661572del g.46195900del 447delT, 541delT - POMGNT1_000015 1 Japan MDDGA3 (MEB) patient (com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/. 2 6 c.447dup r.(?) p.(Asp150*) - pathogenic g.46661572dup g.46195900dup 447dupT, 447dupT A(sp150fsX) - POMGNT1_000028 not in 188 control chromosomes PubMed: Clement, PubMed: Longman 2004 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.452C>T r.(?) p.(Thr151Met) - VUS g.46661565G>A g.46195893G>A - - POMGNT1_000230 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 6 c.458C>G r.(?) p.(Ser153*) - benign g.46661559G>C g.46195887G>C - - POMGNT1_000046 - PubMed: Manya 2008 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.461C>A r.(?) p.(Pro154His) - VUS g.46661556G>T g.46195884G>T - - LURAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 6 c.461C>T r.(?) p.(Pro154Leu) - VUS g.46661556G>A g.46195884G>A - - POMGNT1_000229 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.466G>A r.(?) p.(Glu156Lys) - pathogenic (recessive) g.46661551C>T g.46195879C>T - - POMGNT1_000251 1 more item PubMed: Xu 2016, PubMed: Xu 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 6 c.477dup r.(?) p.(Met160Hisfs*21) - pathogenic g.46661541dup g.46195869dup 477dupC - POMGNT1_000228 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.499G>A r.(?) p.(Val167Ile) - VUS g.46661518C>T g.46195846C>T - - POMGNT1_000249 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 6 c.503C>T r.(?) p.(Ala168Val) - VUS g.46661514G>A g.46195842G>A - - POMGNT1_000227 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.512G>T r.(?) p.(Arg171Leu) - VUS g.46661505C>A g.46195833C>A - - POMGNT1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/+? 2 6 c.526A>C r.(526a>c), r.(?) p.(Thr176Pro) - likely pathogenic, pathogenic g.46661491T>G g.46195819T>G Thr176Pro - POMGNT1_000043 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity PubMed: Godfrey 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen
?/. 1 - c.550C>T r.(?) p.(His184Tyr) - VUS g.46660618G>A g.46194946G>A - - LURAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 7 c.561C>G r.(?) p.(Asp187Glu) - VUS g.46660607G>C g.46194935G>C - - POMGNT1_000226 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/+? 2 7 c.575T>C r.(575u>c), r.(?) p.(Leu192Pro) - likely pathogenic, pathogenic g.46660593A>G g.46194921A>G - - POMGNT1_000150 1 Chinese MDDGA3 (MEB) patient (com-het) PubMed: Jiao 2013 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/+?, +/. 3 7 c.593del r.(593del), r.(?) p.(Ser198Thrfs*43) - pathogenic g.46660575del g.46194903del 593del premTerm240, 593delG - POMGNT1_000051 1 American and 1 German MDDGA3 (MEB) patient (both com-het) PubMed: Hehr 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Rosário dos Santos
+/., ./. 2 7 c.594C>G r.(?) p.(Ser198Arg) - likely pathogenic, pathogenic g.46660574G>C g.46194902G>C - - POMGNT1_000137 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Biancheri et al. 2001, PubMed: Mercuri 2009 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
+?/. 1 7 c.617G>A r.(?) p.(Trp206Ter) - likely pathogenic g.46660551C>T g.46194879C>T - - POMGNT1_000255 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.622G>A r.(?) p.(Asp208Asn) - likely pathogenic g.46660546C>T g.46194874C>T - - POMGNT1_000253 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+/., +?/. 3 7 c.630G>T r.(?) p.(Trp210Cys) - likely pathogenic, pathogenic g.46660538C>A g.46194866C>A POMGNT1(NM_001243766.1):c.630G>T (p.W210C) - POMGNT1_000050 not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Bouchet 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/+?, +/., +?/. 7 7 c.636C>T r.(=), r.(?), r.535_652del, r.spl p.(=), p.(Phe212=), p.Asp179Valfs*23 - likely pathogenic, pathogenic g.46660532G>A g.46194860G>A POMGNT1(NM_001243766.1):c.636C>T (p.F212=) - POMGNT1_000030 1 MDDGA3 (MEB) patient (hom) of unknown ethnicity, strong NMD for variant in muscle, 1 more item from website {DBsub-Emory}, PubMed: Bouchet 2007, PubMed: Cummings 2017, PubMed: Mercuri 2009, 1 more item - - CLASSIFICATION record, Germline, SUMMARY record, Unknown - - - - - Johan den Dunnen, Anne Polvi, Madhuri Hegde, VKGL-NL_Groningen
+/+?, +/. 2 7 c.643C>T r.535_652del p.Asp179Valfs*23 - pathogenic g.46660525G>A g.46194853G>A in-frame skip exon 7 - POMGNT1_000139 1 Italian MDDGA3 (MEB) patient (com-het) and 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity PubMed: Saredi 2012 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/., +?/+? 2 7i c.652+1G>A r.spl, r.spl? p.? - likely pathogenic, pathogenic g.46660515C>T g.46194843C>T - - POMGNT1_000044 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.653-9T>C r.(=) p.(=) - likely benign g.46660332A>G g.46194660A>G POMGNT1(NM_017739.3):c.653-9T>C - POMGNT1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 8 c.664G>A r.(?) p.(Gly222Arg) - VUS g.46660312C>T g.46194640C>T - - POMGNT1_000225 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/+?, +/. 3 8 c.667G>A r.(667g>a), r.(?) p.(Glu223Lys) - pathogenic g.46660309C>T g.46194637C>T 761G>A - POMGNT1_000016 1 Japanese and 1 Belgian MDDGA3 (MEB) patient (both com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline, SUMMARY record - - - - - Johan den Dunnen
-/. 6 8 c.681A>G r.(?) p.(=), p.(?), p.(Lys227=) - benign g.46660295T>C g.46194623T>C POMGNT1(NM_001243766.1):c.681A>G (p.K227=), POMGNT1(NM_017739.3):c.681A>G (p.K227=) - POMGNT1_000045 other pathogenic change in several patients, VKGL data sharing initiative Nederland from website {DBsub-Emory}, PubMed: Godfrey 2007 - rs2292487 CLASSIFICATION record, Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/+? 2 8 c.703G>C r.(?) p.(Gly235Arg) - likely pathogenic, pathogenic g.46660273C>G g.46194601C>G - - POMGNT1_000154 1 Turkish patient (hom) with MDDGA3 (MEB) PubMed: Yis 2014 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
?/. 1 8 c.706G>A r.(?) p.(Asp236Asn) - VUS g.46660270C>T g.46194598C>T - - POMGNT1_000224 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 9 c.758A>T r.(?) p.(Glu253Val) - VUS g.46660067T>A g.46194395T>A - - POMGNT1_000223 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 9 c.788G>A r.(?) p.(Arg263His) - VUS g.46660037C>T g.46194365C>T - - POMGNT1_000222 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.790C>T r.(?) p.(Arg264Cys) - VUS g.46660035G>A g.46194363G>A - - POMGNT1_000248 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs369306680 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/., +?/+?, -?/., ?/. 7 9 c.794G>A r.(?), r.794g>a p.(Arg265His), p.Arg265His - likely benign, likely pathogenic, pathogenic, VUS g.46660031C>T g.46194359C>T 935G>A, 935G>A (R265H) - POMGNT1_000019 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 3 more items PubMed: Bouchet 2007, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Shenoy 2010, 2 more items - rs386834010 Germline, SUMMARY record -, yes 1/2795 individuals - - - Johan den Dunnen, Anne Polvi, Tom Winder, Mohammed Faruq
+/. 1 - c.794G>C r.(?) p.(Arg265Pro) - pathogenic g.46660031C>G g.46194359C>G - - POMGNT1_000157 - PubMed: Xu 2017 - - Germline - - - - - Xiaona Fu
?/. 1 9 c.797G>A r.(?) p.(Arg266Gln) - VUS g.46660028C>T g.46194356C>T - - POMGNT1_000221 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 9 c.805_807del r.(?) p.(Cys269del) - benign g.46660019_46660021del g.46194347_46194349del - - POMGNT1_000047 - PubMed: Manya 2008 - - Germline - - - - - Johan den Dunnen
+/+?, +/. 2 9 c.806G>A r.(?) p.(Cys269Tyr) - pathogenic g.46660019C>T g.46194347C>T 900G>A - POMGNT1_000048 1 Japan MDDGA3 (MEB) patient (com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
?/. 1 - c.812A>G r.(?) p.(Lys271Arg) - VUS g.46660013T>C g.46194341T>C - - POMGNT1_000247 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.816T>C r.(?) p.(Val272=) - likely benign g.46660009A>G g.46194337A>G POMGNT1(NM_017739.3):c.816T>C (p.V272=) - LURAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 9 c.839G>A r.(?) p.(Ser280Asn) - VUS g.46659986C>T g.46194314C>T POMGNT1(NM_001243766.1):c.839G>A (p.S280N) - POMGNT1_000220 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/. 2 - c.860T>G r.(?) p.(Ile287Ser) - pathogenic (recessive) g.46659965A>C g.46194293A>C - - POMGNT1_000250 2 more items PubMed: Xu 2016, PubMed: Xu 2016 - - Germline yes 1/309 unresolved RP cases - - - Johan den Dunnen
?/. 1 - c.862G>A r.(?) p.(Glu288Lys) - VUS g.46659963C>T g.46194291C>T POMGNT1(NM_001243766.1):c.862G>A (p.(Glu288Lys)) - LURAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+?, +/. 2 9i c.879+5G>A r.spl p.? - pathogenic g.46659941C>T g.46194269C>T - - POMGNT1_000026 1 Swedish MDDGA3 (MEB) patient (com-het), not in 150 control chromosomes PubMed: Diesen 2004 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
+/+?, +/., +?/. 3 9i c.879+5G>T r.879_880ins[gtgau;879+6_879+25], r.spl, r.spl? p.?, p.Leu294Valfs*8 - likely pathogenic, pathogenic g.46659941C>A g.46194269C>A POMGNT1(NM_001243766.1):c.879+5G>T - POMGNT1_000025 1 Finnish MDDGA3 (MEB) patient (com-het), not in 150 control chromosomes, 1 more item PubMed: Diesen 2004 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi, VKGL-NL_Groningen
-/. 1 9i c.880-39G>C r.(?) p.(=) - benign g.46659636C>G g.46193964C>G - - POMGNT1_000066 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 9i c.880-5C>T r.(?) p.(=) - VUS g.46659602G>A g.46193930G>A - - POMGNT1_000067 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 2 - c.880-1G>C r.spl? p.? - pathogenic g.46659598C>G g.46193926C>G POMGNT1(NM_001243766.1):c.880-1G>C - POMGNT1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 10 c.888C>A r.(?) p.(Asp296Glu) - VUS g.46659589G>T g.46193917G>T - - POMGNT1_000219 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., ?/. 2 10 c.908C>T r.(?) p.(Pro303Leu) - likely pathogenic, VUS g.46659569G>A g.46193897G>A - - POMGNT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Tom Winder, VKGL-NL_Nijmegen
+/+?, +/. 5 10 c.931C>T r.(?), r.931c>u p.(Arg311*), p.Arg311* - pathogenic g.46659546G>A g.46193874G>A - - POMGNT1_000063 2 Italian MDDGA3 (MEB) patients (both com-het) PubMed: Biancheri 2006, PubMed: Biancheri 2006, PubMed: Mercuri 2009, PubMed: Saredi 2012 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi, Tom Winder
+/., +?/., -?/-?, ?/. 8 10 c.932G>A r.(?), r.932g>a p.(Arg311Gln), p.Arg311Gln - likely benign, likely pathogenic, pathogenic, VUS g.46659545C>T g.46193873C>T 1073G>A, 1073G>A (R311Q), POMGNT1(NM_001243766.1):c.932G>A (p.R311Q) - POMGNT1_000008 not in 500 normal chromosomes, parental DNA not available; not in 200 control chromosomes, 2 more items PubMed: Biancheri 2006, PubMed: Mercuri 2009, PubMed: Bouchet 2007, PubMed: Shenoy 2010, 3 more items - - CLASSIFICATION record, Germline, SUMMARY record -, yes - NgoMN- - - Johan den Dunnen, Anne Polvi, Tom Winder, VKGL-NL_Groningen
-?/. 1 - c.950+3A>G r.spl? p.? - likely benign g.46659524T>C g.46193852T>C POMGNT1(NM_017739.3):c.950+3A>G - POMGNT1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 11 c.956T>C r.(?) p.(Leu319Pro) - VUS g.46659306A>G g.46193634A>G - - POMGNT1_000056 - - - - Germline - - - - - Tom Winder
?/. 1 11 c.958C>T r.(?) p.(Arg320Cys) - VUS g.46659304G>A g.46193632G>A - - POMGNT1_000218 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.959G>A r.(?) p.(Arg320His) - VUS g.46659303C>T g.46193631C>T - - POMGNT1_000246 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs368653589 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/., -?/. 2 - c.960C>G r.(?) p.(Arg320=) - benign, likely benign g.46659302G>C g.46193630G>C POMGNT1(NM_001243766.1):c.960C>G (p.R320=) - LURAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 11 c.961T>C r.(?) p.(Ser321Pro) - likely pathogenic g.46659301A>G g.46193629A>G - - POMGNT1_000074 - - - - Germline - - - - - Tom Winder
+/+?, +/. 2 11 c.982dup r.(982dup), r.(?) p.(Val328Glyfs*11) - pathogenic g.46659284dup g.46193612dup 1077insG - POMGNT1_000017 1 Japan MDDGA3 (MEB) patient (com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - Germline, SUMMARY record - - - - - Johan den Dunnen
?/. 2 11 c.1010T>C r.(?) p.(Ile337Thr) - VUS g.46659252A>G g.46193580A>G - - POMGNT1_000217 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/+?, +/. 6 11 c.1011dup r.(?) p.(Asp338*) - pathogenic g.46659252dup g.46193580dup 1011dupT, 1011insT, 1106insT, c.1011insT - POMGNT1_000018 1 Korean patient (com-het) with probable MDDGA3 (MEB), muscle extract POMGnT1 to GnT1 ratio 0.02 PubMed: Lim 2013, PubMed: Matsumoto 2005, PubMed: Taniguchi 2003, 1 more item - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
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