All transcript variants in gene POMT2

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.

305 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. 1 c.-47_-44del - r.(?) p.(=) g.77787068_77787071del - 1-46_49delCAGA - POMT2_000041 - PubMed: Manya 2008 - - Germline - - - 0 - Johan den Dunnen
-/. 1 c.-47_-44del - r.(?) p.(=) g.77787068_77787071del - 1-46_49delCAGA - POMT2_000041 - PubMed: Manya 2008 - - Germline - - 0.042 0 - Johan den Dunnen
+/. 12 c.? - r.(?) p.(Thr433*) g.? - Thr433X - POMT2_000000 - PubMed: Clement - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.84C>T VUS r.(?) p.(=) g.77786941G>A - - - POMT2_000165 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.87A>G likely benign r.(?) p.(=) g.77786938T>C - POMT2(NM_013382.5):c.87A>G (p.A29=) - GSTZ1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 c.128A>G VUS r.(?) p.(Lys43Arg) g.77786897T>C - - - POMT2_000164 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.148C>G VUS r.(?) p.(Arg50Gly) g.77786877G>C - POMT2(NM_013382.5):c.148C>G (p.(Arg50Gly)) - POMT2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.161C>A benign r.(?) p.(Ala54Glu) g.77786864G>T - POMT2(NM_013382.5):c.161C>A (p.A54E) - POMT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. 1 c.161C>A - r.(?) p.(Ala54Glu) g.77786864G>T - - - POMT2_000006 - from website {DBsub-Emory} - rs8177536 Unknown - - - 0 - Madhuri Hegde
-/. - c.162G>T benign r.(?) p.(=) g.77786863C>A - POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.162G>T benign r.(?) p.(=) g.77786863C>A - POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.162G>T benign r.(?) p.(=) g.77786863C>A - POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.162G>T - r.(?) p.(=) g.77786863C>A - - - POMT2_000007 - from website {DBsub-Emory} - rs2270420 Unknown - - - 0 - Madhuri Hegde
?/. - c.203C>T VUS r.(?) p.(Ser68Phe) g.77786822G>A - - - POMT2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 1 c.224G>C VUS r.(?) p.(Arg75Pro) g.77786801C>G - - - POMT2_000163 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.229G>A VUS r.(?) p.(Asp77Asn) g.77786796C>T - - - POMT2_000162 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 no second variant in POMT2 PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.232G>C VUS r.(?) p.(Glu78Gln) g.77786793C>G - - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.232G>T pathogenic r.(?) p.(Glu78*) g.77786793C>A - POMT2(NM_013382.5):c.232G>T (p.E78*) - GSTZ1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1i c.248+2T>C pathogenic r.spl p.? g.77786775A>G - - - POMT2_000160 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1i c.248+5G>C - r.[248_249ins248+1_248+72; 248+5g>c] p.Cys83Trpfs*2 g.77786772C>G - - - POMT2_000062 - PubMed: Yanagisawa 2009 - - Germline - - - 0 - Rosário dos Santos
+/. 2 c.287A>G - r.(?) p.(Tyr96Cys) g.77778338T>C - - - POMT2_000040 not in 200 control chromosomes PubMed: Manya 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.287A>G - r.(?) p.(Tyr96Cys) g.77778338T>C - - - POMT2_000040 not in 200 control chromosomes PubMed: Manya 2008 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.293A>G - r.(?) p.(Asn98Ser) g.77778332T>C - - - POMT2_000072 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 2 c.293A>G VUS r.(?) p.(Asn98Ser) g.77778332T>C - - - POMT2_000072 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.293A>G VUS r.(?) p.(Asn98Ser) g.77778332T>C - - - POMT2_000072 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.295C>T VUS r.(?) p.(Arg99Cys) g.77778330G>A - - - POMT2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.295C>T VUS r.(?) p.(Arg99Cys) g.77778330G>A - - - POMT2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 2i c.334-2172_657-763delinsCCTG - r.334_656del p.Met112Alafs*16 g.77768355_77774956delinsCAGG - - - POMT2_000042 6.6 Kb deletion PubMed: Manya 2008, PubMed: Yanagisawa 2009 - - Germline - - - 0 - Johan den Dunnen
-?/. 2i c.334-45T>C - r.(?) p.(=) g.77772829A>G - - - POMT2_000049 - - - - Germline - - - 0 - Tom Winder
-/. 2i c.334-45T>C - r.(?) p.(=) g.77772829A>G - - - POMT2_000049 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. - c.431T>G - r.(?) p.(Met144Arg) g.77772687A>C - NM_013382: c.T431G; p.M144R - POMT2_000103 - PubMed: Karaca 2015 - - Germline - - - 0 - Johan den Dunnen
-/. 3i c.439-98A>T - r.(?) p.(=) g.77771241T>A - - - POMT2_000029 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 3i c.439-45C>T - r.(?) p.(=) g.77771188G>A - - - POMT2_000028 other pathogenic change in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. 4 c.512C>T - r.(?) p.(Ser171Leu) g.77771070G>A - - - POMT2_000057 not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.527C>T - r.(?) p.(Thr176Ile) g.77771055G>A - C527T - POMT2_000050 not in 400 control chromosomes PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - 0 - Rosário dos Santos
-/. 4i c.548-77C>G - r.(?) p.(=) g.77769363G>C - - - POMT2_000030 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.551C>T - r.(?) p.(Thr184Met) g.77769283G>A - - - POMT2_000038 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.551C>T - r.(?) p.(Thr184Met) g.77769283G>A - - - POMT2_000038 not in 400 control chromosomes PubMed: Biancheri 2007 - - Germline - - - 0 - Rosário dos Santos
?/. 5 c.551C>T - r.(?) p.(Thr184Met) g.77769283G>A - - - POMT2_000038 not in 400 control chromosomes PubMed: Biancheri 2007 - - Germline - - - 0 - Rosário dos Santos
?/. 5 c.551C>T VUS r.(?) p.(Thr184Met) g.77769283G>A - - - POMT2_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.551C>T pathogenic r.(?) p.(Thr184Met) g.77769283G>A - - - POMT2_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.551C>T pathogenic (recessive) r.(?) p.(Thr184Met) g.77769283G>A - - - POMT2_000038 - PubMed: O'Grady 2016 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.559C>T VUS r.(?) p.(Leu187Phe) g.77769275G>A - - - POMT2_000158 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.586G>T - r.(?) p.(Asp196Tyr) g.77769248C>A - - - POMT2_000068 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.593T>A - r.(?) p.(Ile198Asn) g.77769241A>T - - - POMT2_000039 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.593T>A - r.(?) p.(Ile198Asn) g.77769241A>T - - - POMT2_000039 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.603C>G - r.(?) p.(Phe201Leu) g.77769231G>C - C804G (F201L) - POMT2_000105 unknown variant 2nd chromosome (unstable mRNA) PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
?/. 5 c.603C>G - r.(?) p.(Phe201Leu) g.77769231G>C - - - POMT2_000105 unknown variant 2nd chromosome PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.604T>G - r.(?) p.(Phe202Val) g.77769230A>C - - - POMT2_000059 - PubMed: Murakami 2008 - - Germline - - - 0 - Rosário dos Santos
+/. 5 c.604T>G - r.(?) p.(Phe202Val) g.77769230A>C - - - POMT2_000059 - PubMed: Murakami 2008 - - Germline - - - 0 - Rosário dos Santos
?/. 5 c.613G>A VUS r.(?) p.(Ala205Thr) g.77769221C>T - - - POMT2_000157 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.621G>A VUS r.(?) p.(Met207Ile) g.77769213C>T - - - POMT2_000156 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 5 c.639C>A pathogenic r.(?) p.(Tyr213*) g.77769195G>T - - - POMT2_000155 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.640A>C likely benign r.(?) p.(Asn214His) g.77769194T>G - POMT2(NM_013382.5):c.640A>C (p.N214H) - POMT2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.648C>T likely benign r.(?) p.(=) g.77769186G>A - - - POMT2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 5 c.649G>A VUS r.(?) p.(Ala217Thr) g.77769185C>T - - - POMT2_000154 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5 c.649G>A VUS r.(?) p.(Ala217Thr) g.77769185C>T - - - POMT2_000154 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.652G>A likely benign r.(?) p.(Asp218Asn) g.77769182C>T - POMT2(NM_013382.5):c.652G>A (p.(Asp218Asn)) - POMT2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 5 c.652G>A - r.(?) p.(Asp218Asn) g.77769182C>T - - - POMT2_000073 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-/. - c.656+3C>G benign r.spl? p.? g.77769175G>C - POMT2(NM_013382.5):c.656+3C>G - POMT2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.657-18C>T likely benign r.(=) p.(=) g.77767610G>A - POMT2(NM_013382.5):c.657-18C>T (p.(=)) - POMT2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.657-12G>A benign r.(=) p.(=) g.77767604C>T - POMT2(NM_013382.5):c.657-12G>A - POMT2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 6 c.659C>T VUS r.(?) p.(Pro220Leu) g.77767590G>A - - - POMT2_000153 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 6 c.662T>A VUS r.(?) p.(Phe221Tyr) g.77767587A>T - - - POMT2_000152 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 6 c.700G>A VUS r.(?) p.(Val234Ile) g.77767549C>T - - - POMT2_000151 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 6 c.737G>A - r.(?) p.(Gly246Asp) g.77767512C>T - - - POMT2_000106 - PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
?/. 6 c.796G>A - r.(?) p.(Gly266Arg) g.77767453C>T - - - POMT2_000046 - - - - Germline - - - 0 - Tom Winder
?/. 6 c.807T>G - r.(?) p.(Ser269Arg) g.77767442A>C - - - POMT2_000044 - - - - Germline - - - 0 - Judith Pagan
?/. 6 c.807T>G - r.(?) p.(Ser269Arg) g.77767442A>C - - - POMT2_000044 - - - - Germline - - - 0 - Judith Pagan
?/. - c.807T>G VUS r.(?) p.(Ser269Arg) g.77767442A>C - POMT2(NM_013382.5):c.807T>G (p.S269R) - POMT2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 6i c.816+51T>C - r.(?) p.(=) g.77767382A>G - - - POMT2_000045 - - - - Germline - - - 0 - Judith Pagan
?/. 6i c.816+51T>C - r.(?) p.(=) g.77767382A>G - - - POMT2_000045 - - - - Germline - - - 0 - Judith Pagan
-/. 6i c.817-26C>T - r.(?) p.(=) g.77765930G>A - - - POMT2_000031 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
?/. 7 c.829A>G VUS r.(?) p.(Lys277Glu) g.77765892T>C - - - POMT2_000150 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 7 c.844C>T VUS r.(?) p.(Arg282Cys) g.77765877G>A - - - POMT2_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 7 c.844C>T VUS r.(?) p.(Arg282Cys) g.77765877G>A - - - POMT2_000149 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 7 c.856C>T VUS r.(?) p.(Leu286Phe) g.77765865G>A - - - POMT2_000148 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.881A>G likely pathogenic r.(?) p.(Tyr294Cys) g.77765840T>C - - - POMT2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 7 c.884C>T VUS r.(?) p.(Thr295Ile) g.77765837G>A - - - POMT2_000147 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.902A>G VUS r.(?) p.(His301Arg) g.77765819T>C - POMT2(NM_013382.5):c.902A>G (p.H301R) - POMT2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.924-10C>T likely benign r.(=) p.(=) g.77765124G>A - POMT2(NM_013382.5):c.924-10C>T - POMT2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 7i c.924-10C>T - r.(?) p.(=) g.77765124G>A - - - POMT2_000074 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 7i c.924-2A>C - r.(spl?) p.(?) g.77765116T>G - - - POMT2_000064 - PubMed: Manzini 2008 - - Germline - - - 0 - Rosário dos Santos
+/. 7i c.924-2A>C - r.(spl?) p.(?) g.77765116T>G - - - POMT2_000064 - PubMed: Manzini 2008 - - Germline - - - 0 - Rosário dos Santos
+/. 7i c.924-2A>G - r.924_947del p.Gly309_Ser316del g.77765116T>C - - - POMT2_000058 - PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 7i c.924-2A>G pathogenic r.spl p.? g.77765116T>C - - - POMT2_000058 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.924-2A>T pathogenic r.spl? p.? g.77765116T>A - - - POMT2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 8 c.958C>T pathogenic r.(?) p.(Gln320*) g.77765080G>A - - - POMT2_000146 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 8 c.964C>G VUS r.(?) p.(Arg322Gly) g.77765074G>C - - - POMT2_000145 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 8 c.1006C>T VUS r.(?) p.(His336Tyr) g.77765032G>A - - - POMT2_000144 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.1006+1G>A pathogenic r.spl? p.? g.77765031C>T - - - POMT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 8i c.1006+1G>A - r.spl? p.? g.77765031C>T - - - POMT2_000002 not in 290 control chromosomes PubMed: van Reeuwijk 2005, OMIM:var0002 - - Germline - - -HpyCH4IV 0 - Johan den Dunnen
+/. 8i c.1006+1G>A - r.spl? p.? g.77765031C>T - - - POMT2_000002 not in 290 control chromosomes PubMed: van Reeuwijk 2005, OMIM:var0002 - - Germline - - -HpyCH4IV 0 - Johan den Dunnen
+/. 8i c.1006+1G>A - r.[1006_1007ins1006+1_1006+26; 1006+1g>a] p.Leu337Glufs*15 g.77765031C>T - - - POMT2_000002 - PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
Legend   « First ‹ Prev     1 2 3 4     Next › Last »