Unique variants in the POMT2 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_013382.5 transcript reference sequence.

209 entries on 3 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     
-/. 2 1 c.-47_-44del r.(?) p.(=) - benign g.77787070_77787073del g.77320727_77320730del 1-46_49delCAGA - POMT2_000041 - PubMed: Manya 2008 - - Germline - - 0.042 - - Johan den Dunnen
+/. 1 12 c.? r.(?) p.(Thr433*) - pathogenic g.? - Thr433X - POMT2_000000 - PubMed: Clement - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.84C>T r.(?) p.(=) - VUS g.77786941G>A g.77320598G>A - - POMT2_000165 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.128A>G r.(?) p.(Lys43Arg) - VUS g.77786897T>C g.77320554T>C - - POMT2_000164 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.148C>G r.(?) p.(Arg50Gly) - VUS g.77786877G>C g.77320534G>C POMT2(NM_013382.5):c.148C>G (p.(Arg50Gly)) - POMT2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 1 c.161C>A r.(?) p.(Ala54Glu) - benign g.77786864G>T g.77320521G>T POMT2(NM_013382.5):c.161C>A (p.A54E) - POMT2_000006 VKGL data sharing initiative Nederland from website {DBsub-Emory} - rs8177536 CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
-/. 4 1 c.162G>T r.(?) p.(=), p.(Ala54=) - benign g.77786863C>A g.77320520C>A POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland from website {DBsub-Emory} - rs2270420 CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.203C>T r.(?) p.(Ser68Phe) - VUS g.77786822G>A g.77320479G>A - - POMT2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.224G>C r.(?) p.(Arg75Pro) - VUS g.77786801C>G g.77320458C>G - - POMT2_000163 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 4 - c.227T>G r.(?) p.(Leu76Trp) - likely pathogenic (recessive), pathogenic (recessive) g.77786798A>C g.77320455A>C - - POMT2_000216 - PubMed: Chen 2021, PubMed: Liang 2020, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.229G>A r.(?) p.(Asp77Asn) - VUS g.77786796C>T g.77320453C>T - - POMT2_000162 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 7 1 c.232G>C r.(?) p.(Glu78Gln) - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 no second variant, no second variant in POMT2 PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.232G>T r.(?) p.(Glu78Ter) - pathogenic g.77786793C>A g.77320450C>A POMT2(NM_013382.5):c.232G>T (p.E78*) - GSTZ1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 1i c.248+2T>C r.spl p.? - pathogenic g.77786775A>G g.77320432A>G - - POMT2_000160 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1i c.248+5G>C r.[248_249ins248+1_248+72; 248+5g>c] p.Cys83Trpfs*2 - pathogenic g.77786772C>G g.77320429C>G - - POMT2_000062 - PubMed: Yanagisawa 2009 - - Germline - - - - - Rosário dos Santos
+/., +?/. 6 2 c.287A>G r.(?) p.(Tyr96Cys) - likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.77778338T>C g.77311995T>C - - POMT2_000040 not in 200 control chromosomes PubMed: Chen 2021, PubMed: Manya 2008, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 3 2 c.293A>G r.(?) p.(Asn98Ser) - VUS g.77778332T>C g.77311989T>C - - POMT2_000072 no second variant from website {DBsub-Emory}, PubMed: Nallamilli 2018 - - Germline, Unknown - - - - - Madhuri Hegde
+/., +?/., ?/. 4 2 c.295C>T r.(?) p.(Arg99Cys) - likely pathogenic (recessive), pathogenic (recessive), VUS g.77778330G>A g.77311987G>A - - POMT2_000159 - PubMed: Liang 2020, PubMed: Nallamilli 2018, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+?/. 1 2 c.295del r.(?) p.(Arg99Valfs*15) - pathogenic (recessive) g.77778330del - - - POMT2_000200 - Luce 2021, submitted - - Unknown - - - - - Florencia Giliberto
+?/. 1 - c.306C>A r.(?) p.(Phe102Leu) - likely pathogenic (recessive) g.77778319G>T g.77311976G>T - - POMT2_000192 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - - - - - Johan den Dunnen
+?/. 1 2 c.332A>G r.(?) p.(Lys111Arg) - likely pathogenic (recessive) g.77778293T>C - - - POMT2_000199 - Luce 2021, submitted - - Unknown - - - - - Florencia Giliberto
+/. 1 2i c.334-2172_657-763delinsCCTG r.334_656del p.Met112Alafs*16 - pathogenic g.77768355_77774956delinsCAGG g.77302012_77308613delinsCAGG - - POMT2_000042 6.6 Kb deletion PubMed: Manya 2008, PubMed: Yanagisawa 2009 - - Germline - - - - - Johan den Dunnen
-/., -?/. 2 2i c.334-45T>C r.(?) p.(=) - benign, likely benign g.77772829A>G g.77306486A>G - - POMT2_000049 - from website {DBsub-Emory} - - Germline, Unknown - - - - - Madhuri Hegde, Tom Winder
+/. 1 - c.365G>T r.(?) p.(Gly122Val) - pathogenic (recessive) g.77772753C>A g.77306410C>A - - POMT2_000215 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 3 c.406T>C r.(?) p.(Tyr136His) - likely pathogenic (recessive) g.77772712A>G g.77306369A>G - - POMT2_000191 - Luce 2021, submitted, PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline, Unknown - - - - - Johan den Dunnen, Florencia Giliberto
?/. 1 - c.431T>C r.(?) p.(Met144Thr) - VUS g.77772687A>G - POMT2(NM_013382.5):c.431T>C (p.M144T) - POMT2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.431T>G r.(?) p.(Met144Arg) - pathogenic g.77772687A>C g.77306344A>C NM_013382: c.T431G; p.M144R - POMT2_000103 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
-/. 1 3i c.439-98A>T r.(?) p.(=) - benign g.77771241T>A g.77304898T>A - - POMT2_000029 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 3i c.439-45C>T r.(?) p.(=) - benign g.77771188G>A g.77304845G>A - - POMT2_000028 other pathogenic change in several patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 - c.479A>G r.(?) p.(Tyr160Cys) - likely pathogenic (recessive), pathogenic (recessive) g.77771103T>C g.77304760T>C - - POMT2_000214 - PubMed: Chen 2021, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.487G>C r.(?) p.(Val163Leu) - pathogenic (recessive) g.77771095C>G g.77304752C>G - - POMT2_000213 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
-?/. 1 4 c.512C>T r.(?) p.(Ser171Leu) - likely benign g.77771070G>A g.77304727G>A - - POMT2_000057 not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.527C>T r.(?) p.(Thr176Ile) - pathogenic g.77771055G>A g.77304712G>A C527T - POMT2_000050 not in 400 control chromosomes PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - - - Rosário dos Santos
-/. 1 4i c.548-77C>G r.(?) p.(=) - benign g.77769363G>C g.77303020G>C - - POMT2_000030 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 12 5 c.551C>T r.(?) p.(Thr184Met) - likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.77769283G>A g.77302940G>A - - POMT2_000038 1 heterozygous, no homozygous; Clinindb (India), combination of variants not reported, 1 more item PubMed: Biancheri 2007, PubMed: Biancheri 2007, PubMed: Chen 2021, PubMed: Godfrey 2007, 6 more items - rs267606971 Germline - 1/1001 cases, 1/2795 individuals - - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde, Mohammed Faruq
+/. 1 - c.557G>A r.(?) p.(Cys186Tyr) - likely pathogenic (recessive) g.77769277C>T g.77302934C>T - - POMT2_000195 - PubMed: Ostergaard 2018, PubMed: Topf 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 5 c.559C>T r.(?) p.(Leu187Phe) - VUS g.77769275G>A g.77302932G>A - - POMT2_000158 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.586G>T r.(?) p.(Asp196Tyr) - VUS g.77769248C>A g.77302905C>A - - POMT2_000068 - - - - Germline - - - - - Tom Winder
+/. 2 5 c.593T>A r.(?) p.(Ile198Asn) - pathogenic g.77769241A>T g.77302898A>T - - POMT2_000039 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
?/. 2 5 c.603C>G r.(?) p.(Phe201Leu) - VUS g.77769231G>C g.77302888G>C C804G (F201L) - POMT2_000105 unknown variant 2nd chromosome, unknown variant 2nd chromosome (unstable mRNA) PubMed: Mercuri 2009, PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 5 c.604T>G r.(?) p.(Phe202Val) - likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.77769230A>C g.77302887A>C - - POMT2_000059 - PubMed: Chen 2021, PubMed: Murakami 2008, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen, Rosário dos Santos
?/. 1 5 c.613G>A r.(?) p.(Ala205Thr) - VUS g.77769221C>T g.77302878C>T - - POMT2_000157 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.621G>A r.(?) p.(Met207Ile) - VUS g.77769213C>T g.77302870C>T - - POMT2_000156 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.629T>C r.(?) p.(Met210Thr) - VUS g.77769205A>G g.77302862A>G - - POMT2_000179 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
+/. 1 5 c.639C>A r.(?) p.(Tyr213*) - pathogenic g.77769195G>T g.77302852G>T - - POMT2_000155 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.640A>C r.(?) p.(Asn214His) - likely benign g.77769194T>G g.77302851T>G POMT2(NM_013382.5):c.640A>C (p.N214H) - POMT2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.648C>T r.(?) p.(Cys216=) - likely benign g.77769186G>A g.77302843G>A POMT2(NM_013382.5):c.648C>T (p.C216=) - POMT2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 3 5 c.649G>A r.(?) p.(Ala217Thr) - VUS g.77769185C>T g.77302842C>T POMT2(NM_013382.5):c.649G>A (p.A217T) - POMT2_000154 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_VUmc
-?/., ?/. 2 5 c.652G>A r.(?) p.(Asp218Asn) - likely benign, VUS g.77769182C>T g.77302839C>T POMT2(NM_013382.5):c.652G>A (p.(Asp218Asn)) - POMT2_000073 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Leiden
-/. 1 - c.656+3C>G r.spl? p.? - benign g.77769175G>C g.77302832G>C POMT2(NM_013382.5):c.656+3C>G - POMT2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.657-18C>T r.(=) p.(=) - likely benign g.77767610G>A g.77301267G>A POMT2(NM_013382.5):c.657-18C>T (p.(=)) - POMT2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.657-12G>A r.(=) p.(=) - benign g.77767604C>T g.77301261C>T POMT2(NM_013382.5):c.657-12G>A - POMT2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.659C>T r.(?) p.(Pro220Leu) - VUS g.77767590G>A g.77301247G>A - - POMT2_000153 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 6 c.662T>A r.(?) p.(Phe221Tyr) - VUS g.77767587A>T g.77301244A>T - - POMT2_000152 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 6 c.700G>A r.(?) p.(Val234Ile) - likely benign, VUS g.77767549C>T g.77301206C>T POMT2(NM_013382.5):c.700G>A (p.V234I) - POMT2_000151 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/., +?/. 2 - c.713G>T r.(?) p.(Gly238Val) - likely pathogenic (recessive) g.77767536C>A g.77301193C>A - - POMT2_000190 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020, 1 more item - - Germline yes - - - - Johan den Dunnen
+/. 1 6 c.737G>A r.(?) p.(Gly246Asp) - pathogenic g.77767512C>T g.77301169C>T - - POMT2_000106 - PubMed: Mercuri 2009 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 6 c.796G>A r.(?) p.(Gly266Arg) - likely pathogenic (recessive), VUS g.77767453C>T g.77301110C>T - - POMT2_000046 - PubMed: Ostergaard 2018 - - Germline - - - - - Johan den Dunnen, Tom Winder
?/. 3 6 c.807T>G r.(?) p.(Ser269Arg) - VUS g.77767442A>C g.77301099A>C POMT2(NM_013382.5):c.807T>G (p.S269R) - POMT2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Judith Pagan, VKGL-NL_Rotterdam
+?/. 1 - c.816+1G>A r.spl p.? - likely pathogenic (recessive) g.77767432C>T g.77301089C>T - - POMT2_000189 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - - - - - Johan den Dunnen
?/. 2 6i c.816+51T>C r.(?) p.(=) - VUS g.77767382A>G g.77301039A>G - - POMT2_000045 - - - - Germline - - - - - Judith Pagan
-/. 1 6i c.817-26C>T r.(?) p.(=) - benign g.77765930G>A g.77299587G>A - - POMT2_000031 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
?/. 1 7 c.829A>G r.(?) p.(Lys277Glu) - VUS g.77765892T>C g.77299549T>C - - POMT2_000150 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 7 c.844C>T r.(?) p.(Arg282Cys) - VUS g.77765877G>A g.77299534G>A - - POMT2_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 7 c.856C>T r.(?) p.(Leu286Phe) - VUS g.77765865G>A g.77299522G>A - - POMT2_000148 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.868C>T r.(?) p.(Pro290Ser) - pathogenic (recessive) g.77765853G>A g.77299510G>A - - POMT2_000212 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/., ?/. 4 - c.874G>C r.(?) p.(Ala292Pro) - pathogenic (recessive), VUS g.77765847C>G g.77299504C>G - - POMT2_000211 - PubMed: Chen 2021, PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.878T>A r.(?) p.(Leu293His) - likely pathogenic (recessive) g.77765843A>T g.77299500A>T - - POMT2_000188 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 - c.881A>G r.(?) p.(Tyr294Cys) - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive) g.77765840T>C g.77299497T>C - - POMT2_000177 VKGL data sharing initiative Nederland PubMed: Riazuddin 2017, PubMed: Song 2021 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 7 c.884C>T r.(?) p.(Thr295Ile) - VUS g.77765837G>A g.77299494G>A - - POMT2_000147 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.902A>G r.(?) p.(His301Arg) - VUS g.77765819T>C g.77299476T>C POMT2(NM_013382.5):c.902A>G (p.H301R) - POMT2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 7i c.924-10C>T r.(=), r.(?) p.(=) - likely benign, VUS g.77765124G>A g.77298781G>A POMT2(NM_013382.5):c.924-10C>T - POMT2_000074 VKGL data sharing initiative Nederland from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
+/. 2 7i c.924-2A>C r.(spl?) p.(?) - pathogenic g.77765116T>G g.77298773T>G - - POMT2_000064 - PubMed: Manzini 2008 - - Germline - - - - - Rosário dos Santos
+/. 2 7i c.924-2A>G r.924_947del, r.spl p.?, p.Gly309_Ser316del - pathogenic g.77765116T>C g.77298773T>C - - POMT2_000058 no second variant PubMed: Bouchet 2007, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 - c.924-2A>T r.spl? p.? - pathogenic g.77765116T>A g.77298773T>A - - POMT2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 7i_8i c.(923+1_924-1)_(1006+1_1007-1)del r.? p.? - pathogenic (recessive) g.(77762617_77765031)_(77765115_77765797)del g.(77296274_77298688)_(77298772_77299454)del del ex8 - POMT2_000202 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 8 c.958C>T r.(?) p.(Gln320*) - pathogenic g.77765080G>A g.77298737G>A - - POMT2_000146 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.964C>G r.(?) p.(Arg322Gly) - VUS g.77765074G>C g.77298731G>C - - POMT2_000145 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.1006C>T r.(?) p.(His336Tyr) - VUS g.77765032G>A g.77298689G>A - - POMT2_000144 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 5 8i c.1006+1G>A r.spl, r.spl?, r.[1006_1007ins1006+1_1006+26; 1006+1g>a] p.?, p.Leu337Glufs*15 - pathogenic g.77765031C>T g.77298688C>T - - POMT2_000002 not in 290 control chromosomes, VKGL data sharing initiative Nederland PubMed: Bouchet 2007, PubMed: Nallamilli 2018, PubMed: van Reeuwijk 2005, OMIM:var0002 - - CLASSIFICATION record, Germline - - -HpyCH4IV - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Nijmegen
+/. 1 8i c.1006+5G>A r.(spl?) p.(?) - pathogenic g.77765027C>T g.77298684C>T - - POMT2_000065 - PubMed: Manzini 2008 - - Germline - - - - - Rosário dos Santos
-/. 1 8i c.1007-46C>T r.(?) p.(=) - benign g.77762662G>A g.77296319G>A - - POMT2_000015 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/., ?/. 2 8i c.1007-32G>A r.(?) p.(=) - benign, VUS g.77762648C>T g.77296305C>T - - POMT2_000014 other pathogenic change in several patients from website {DBsub-Emory}, PubMed: Godfrey 2007 - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
+?/. 1 - c.1030A>C r.(?) p.(Thr344Pro) - likely pathogenic (recessive) g.77762593T>G g.77296250T>G - - POMT2_000187 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1031C>T r.(?) p.(Thr344Ile) - likely pathogenic (recessive) g.77762592G>A g.77296249G>A - - POMT2_000194 - PubMed: Ostergaard 2018, PubMed: Topf 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 9 c.1042C>G r.(?) p.(Leu348Val) - VUS g.77762581G>C g.77296238G>C - - POMT2_000075 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 4 9 c.1045C>T r.(?) p.(Arg349Trp) - VUS g.77762578G>A g.77296235G>A - - POMT2_000143 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Nallamilli 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs141339355 Germline - 1/2795 individuals - - - Madhuri Hegde, Mohammed Faruq
+/. 1 9 c.1045_1052delinsG r.(?) p.(Arg349Alafs*47) - pathogenic g.77762571_77762578delinsC g.77296228_77296235delinsC - - POMT2_000076 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 9 c.1046G>A r.(?) p.(Arg349Gln) - VUS g.77762577C>T g.77296234C>T - - POMT2_000142 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 9 c.1051del r.(?) p.(Ala351Profs*47), p.(Ala351ProfsTer47) - pathogenic g.77762573del g.77296230del - - POMT2_000032, POMT2_000172 VKGL data sharing initiative Nederland PubMed: Bouchet 2007, PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/. 7 9 c.1057G>A r.(?) p.(Gly353Ser) - likely pathogenic, pathogenic g.77762566C>T g.77296223C>T G1057A - POMT2_000004 not in 400 control chromosomes, not in 500 control chromosomes PubMed: Ganapathy 2019, PubMed: Mercuri 2006, PubMed: Godfrey 2007, PubMed: Mercuri 2009, 2 more items - - Germline - - - - - Johan den Dunnen, Rosário dos Santos, Tom Winder
+/. 1 - c.1057_1058dup r.(?) p.(Tyr354Alafs*45) - likely pathogenic g.77762565_77762566dup g.77296222_77296223dup - - POMT2_000217 - PubMed: Macias 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1061A>G r.(?) p.(Tyr354Cys) - VUS g.77762562T>C g.77296219T>C - - POMT2_000219 - PubMed: Liang 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 9 c.1064T>C r.(?) p.(Leu355Pro) - VUS g.77762559A>G g.77296216A>G - - POMT2_000047 - - - - Germline - - - - - Tom Winder
+?/. 1 9i c.1116+1G>A r.spl? p.? - likely pathogenic g.77762506C>T g.77296163C>T - - POMT2_000067 - PubMed: Willer 2012 - - Germline - - - - - Tom Winder
?/. 1 9i c.1116+4A>G r.spl? p.? - VUS g.77762503T>C g.77296160T>C - - POMT2_000141 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 2 9i c.1116+35A>G r.(?) p.(=) - benign g.77762472T>C g.77296129T>C - - POMT2_000017 - from website {DBsub-Emory}, PubMed: Godfrey 2007 - rs2302831 Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
-/. 1 9i c.1116+91C>T r.(?) p.(=) - benign g.77762416G>A g.77296073G>A - - POMT2_000018 other pathogenic change in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 9i c.1116+165C>T r.(?) p.(=) - benign g.77762342G>A g.77295999G>A - - POMT2_000016 other pathogenic change in several patients PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
-?/. 1 9i c.1117-827del r.(=) p.= - likely benign g.77758554del g.77292211del - - POMT2_000061 - PubMed: Yanagisawa 2009 - - Germline - - - - - Rosário dos Santos
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