Full data view for 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.

415 entries on 5 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     
-/. 1 c.-47_-44del r.(?) p.(=) Paternal (confirmed) - benign g.77787070_77787073del g.77320727_77320730del 1-46_49delCAGA - POMT2_000041 - PubMed: Manya 2008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC - PubMed: Manya 2008, PubMed: Yanagisawa 2009 - F - France - 16y 0 - - 1 Johan den Dunnen
-/. 1 c.-47_-44del r.(?) p.(=) Unknown - benign g.77787070_77787073del g.77320727_77320730del 1-46_49delCAGA - POMT2_000041 - PubMed: Manya 2008 - - Germline - - 0.042 0 - DNA SEQ - - MD - PubMed: Manya 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. 12 c.? r.(?) p.(Thr433*) Both (homozygous) - pathogenic g.? - Thr433X - POMT2_000000 - PubMed: Clement - - Germline - - - 0 - DNA SEQ - - MDC 19067344-Pat26 PubMed: Clement 2008 - - - - - - 0 - - 1 Johan den Dunnen
?/. 1 c.84C>T r.(?) p.(=) Parent #1 - VUS g.77786941G>A g.77320598G>A - - POMT2_000165 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.128A>G r.(?) p.(Lys43Arg) Parent #1 - VUS g.77786897T>C g.77320554T>C - - POMT2_000164 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.148C>G r.(?) p.(Arg50Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.161C>A r.(?) p.(Ala54Glu) Unknown - benign g.77786864G>T g.77320521G>T POMT2(NM_013382.5):c.161C>A (p.A54E) - POMT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.161C>A r.(?) p.(Ala54Glu) Unknown - benign g.77786864G>T g.77320521G>T - - POMT2_000006 - from website {DBsub-Emory} - rs8177536 Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.162G>T r.(?) p.(Ala54=) Unknown - benign g.77786863C>A g.77320520C>A POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.162G>T r.(?) p.(Ala54=) Unknown - benign g.77786863C>A g.77320520C>A POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.162G>T r.(?) p.(Ala54=) Unknown - benign g.77786863C>A g.77320520C>A POMT2(NM_013382.5):c.162G>T (p.A54=) - POMT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.162G>T r.(?) p.(=) Unknown - benign g.77786863C>A g.77320520C>A - - POMT2_000007 - from website {DBsub-Emory} - rs2270420 Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.203C>T r.(?) p.(Ser68Phe) Unknown - VUS g.77786822G>A g.77320479G>A - - POMT2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.224G>C r.(?) p.(Arg75Pro) Parent #1 - VUS g.77786801C>G g.77320458C>G - - POMT2_000163 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.227T>G r.(?) p.(Leu76Trp) Parent #2 - pathogenic (recessive) g.77786798A>C g.77320455A>C - - POMT2_000216 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat108 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
+?/. - c.227T>G r.(?) p.(Leu76Trp) Parent #1 - likely pathogenic (recessive) g.77786798A>C g.77320455A>C - - POMT2_000216 - PubMed: Chen 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat11 PubMed: Chen 2021 patient F no China - - 0 - - 1 Johan den Dunnen
+?/. - c.227T>G r.(?) p.(Leu76Trp) Parent #2 - likely pathogenic (recessive) g.77786798A>C g.77320455A>C - - POMT2_000216 - PubMed: Liang 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat4a PubMed: Chen 2021 family, 2 affected F no China - - 0 - - 2 Johan den Dunnen
+?/. - c.227T>G r.(?) p.(Leu76Trp) Parent #2 - likely pathogenic (recessive) g.77786798A>C g.77320455A>C - - POMT2_000216 - PubMed: Liang 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat5a PubMed: Chen 2021 sib of Pat4a M no China - - 0 - - 1 Johan den Dunnen
?/. 1 c.229G>A r.(?) p.(Asp77Asn) Parent #1 - VUS g.77786796C>T g.77320453C>T - - POMT2_000162 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 no second variant in POMT2 PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.232G>C r.(?) p.(Glu78Gln) Parent #1 - VUS g.77786793C>G g.77320450C>G - - POMT2_000161 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.232G>T r.(?) p.(Glu78Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.248+2T>C r.spl p.? Parent #1 - pathogenic g.77786775A>G g.77320432A>G - - POMT2_000160 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1i c.248+5G>C r.[248_249ins248+1_248+72; 248+5g>c] p.Cys83Trpfs*2 Parent #2 - pathogenic g.77786772C>G g.77320429C>G - - POMT2_000062 - PubMed: Yanagisawa 2009 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC - PubMed: Yanagisawa 2009 - M - France - >4y 0 - - 1 Rosário dos Santos
+/. 2 c.287A>G r.(?) p.(Tyr96Cys) Parent #1 - pathogenic g.77778338T>C g.77311995T>C - - POMT2_000040 not in 200 control chromosomes PubMed: Manya 2008 - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Manya 2008 - - - - - 2y6m 0 - - 1 Johan den Dunnen
+/. 2 c.287A>G r.(?) p.(Tyr96Cys) Parent #2 - pathogenic g.77778338T>C g.77311995T>C - - POMT2_000040 not in 200 control chromosomes PubMed: Manya 2008 - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Manya 2008 - - - - - 2y6m 0 - - 1 Johan den Dunnen
+/. - c.287A>G r.(?) p.(Tyr96Cys) Parent #1 - pathogenic (recessive) g.77778338T>C g.77311995T>C - - POMT2_000040 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat110 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.287A>G r.(?) p.(Tyr96Cys) Parent #2 - pathogenic (recessive) g.77778338T>C g.77311995T>C - - POMT2_000040 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat113 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.287A>G r.(?) p.(Tyr96Cys) Parent #1 - likely pathogenic (recessive) g.77778338T>C g.77311995T>C - - POMT2_000040 - PubMed: Chen 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat1 PubMed: Chen 2021 patient M no China - - 0 - - 1 Johan den Dunnen
+?/. - c.287A>G r.(?) p.(Tyr96Cys) Parent #2 - likely pathogenic (recessive) g.77778338T>C g.77311995T>C - - POMT2_000040 - PubMed: Chen 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat3 PubMed: Chen 2021 patient M no China - - 0 - - 1 Johan den Dunnen
?/. 2 c.293A>G r.(?) p.(Asn98Ser) Unknown - VUS g.77778332T>C g.77311989T>C - - POMT2_000072 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.293A>G r.(?) p.(Asn98Ser) Parent #1 - VUS g.77778332T>C g.77311989T>C - - POMT2_000072 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.293A>G r.(?) p.(Asn98Ser) Parent #1 - VUS g.77778332T>C g.77311989T>C - - POMT2_000072 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.295C>T r.(?) p.(Arg99Cys) Parent #1 - VUS g.77778330G>A g.77311987G>A - - POMT2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.295C>T r.(?) p.(Arg99Cys) Parent #1 - VUS g.77778330G>A g.77311987G>A - - POMT2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.295C>T r.(?) p.(Arg99Cys) Parent #2 - pathogenic (recessive) g.77778330G>A g.77311987G>A - - POMT2_000159 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat112 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
+?/. - c.295C>T r.(?) p.(Arg99Cys) Parent #2 - likely pathogenic (recessive) g.77778330G>A g.77311987G>A - - POMT2_000159 - PubMed: Liang 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat6 PubMed: Chen 2021 patient F no China - - 0 - - 1 Johan den Dunnen
+?/. 2 c.295del r.(?) p.(Arg99Valfs*15) Unknown - pathogenic (recessive) g.77778330del - - - POMT2_000200 - Luce 2021, submitted - - Unknown - - - 0 - DNA SEQ-NG-I BLOOD - MD - Luce 2021, submitted - M - - - - 0 - - 1 Florencia Giliberto
+?/. - c.306C>A r.(?) p.(Phe102Leu) Parent #2 - likely pathogenic (recessive) g.77778319G>T g.77311976G>T - - POMT2_000192 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat8;Pat25 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - F - Spain white - 0 - - 1 Johan den Dunnen
+?/. 2 c.332A>G r.(?) p.(Lys111Arg) Unknown - likely pathogenic (recessive) g.77778293T>C - - - POMT2_000199 - Luce 2021, submitted - - Unknown - - - 0 - DNA SEQ-NG-I BLOOD - MD - Luce 2021, submitted - M - - - - 0 - - 1 Florencia Giliberto
+/. 2i c.334-2172_657-763delinsCCTG r.334_656del p.Met112Alafs*16 Paternal (confirmed) - pathogenic g.77768355_77774956delinsCAGG g.77302012_77308613delinsCAGG - - POMT2_000042 6.6 Kb deletion PubMed: Manya 2008, PubMed: Yanagisawa 2009 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC - PubMed: Manya 2008, PubMed: Yanagisawa 2009 - F - France - 16y 0 - - 1 Johan den Dunnen
-?/. 2i c.334-45T>C r.(?) p.(=) Unknown - likely benign g.77772829A>G g.77306486A>G - - POMT2_000049 - - - - Germline - - - 0 - DNA SEQ - - MDC - - - - - United States - - 0 - - 1 Tom Winder
-/. 2i c.334-45T>C r.(?) p.(=) Unknown - benign g.77772829A>G g.77306486A>G - - POMT2_000049 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.365G>T r.(?) p.(Gly122Val) Parent #2 - pathogenic (recessive) g.77772753C>A g.77306410C>A - - POMT2_000215 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat122 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
+?/. - c.406T>C r.(?) p.(Tyr136His) Parent #1 - likely pathogenic (recessive) g.77772712A>G g.77306369A>G - - POMT2_000191 - PubMed: Ostergaard 2018, PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat7;Pat24 PubMed: Ostergaard 2018, PubMed: Johnson 2018 - F - Spain white - 0 - - 1 Johan den Dunnen
+/. 3 c.406T>C r.(?) p.(Tyr136His) Unknown - likely pathogenic (recessive) g.77772712A>G - - - POMT2_000191 - Luce 2021, submitted - - Unknown - - - 0 - DNA SEQ-NG-I BLOOD - MD - Luce 2021, submitted - M - - - - 0 - - 1 Florencia Giliberto
+?/. 3 c.406T>C r.(?) p.(Tyr136His) Unknown - likely pathogenic (recessive) g.77772712A>G - - - POMT2_000191 - Luce 2021, submitted - - Unknown - - - 0 - DNA SEQ-NG-I BLOOD - MD - Luce 2021, submitted - M - - - - 0 - - 1 Florencia Giliberto
?/. - c.431T>C r.(?) p.(Met144Thr) Unknown - VUS g.77772687A>G - POMT2(NM_013382.5):c.431T>C (p.M144T) - POMT2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.431T>G r.(?) p.(Met144Arg) Both (homozygous) - pathogenic g.77772687A>C g.77306344A>C NM_013382: c.T431G; p.M144R - POMT2_000103 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB4388 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 1 Johan den Dunnen
-/. 3i c.439-98A>T r.(?) p.(=) Unknown - benign g.77771241T>A g.77304898T>A - - POMT2_000029 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 3i c.439-45C>T r.(?) p.(=) Unknown - benign g.77771188G>A g.77304845G>A - - POMT2_000028 other pathogenic change in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.479A>G r.(?) p.(Tyr160Cys) Parent #1 - pathogenic (recessive) g.77771103T>C g.77304760T>C - - POMT2_000214 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat113 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.479A>G r.(?) p.(Tyr160Cys) Parent #1 - likely pathogenic (recessive) g.77771103T>C g.77304760T>C - - POMT2_000214 - PubMed: Chen 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat3 PubMed: Chen 2021 patient M no China - - 0 - - 1 Johan den Dunnen
+/. - c.487G>C r.(?) p.(Val163Leu) Parent #1 - pathogenic (recessive) g.77771095C>G g.77304752C>G - - POMT2_000213 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat115 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
-?/. 4 c.512C>T r.(?) p.(Ser171Leu) Parent #1 - likely benign g.77771070G>A g.77304727G>A - - POMT2_000057 not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - DNA SEQ - - LIS - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - 1 Johan den Dunnen
+/. 4 c.527C>T r.(?) p.(Thr176Ile) Parent #1 - pathogenic g.77771055G>A g.77304712G>A C527T - POMT2_000050 not in 400 control chromosomes PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 18513969-Pat16, 19299310-Pat22 PubMed: Messina 2008, PubMed: Mercuri 2009 - M - Italy - - 0 - - 1 Rosário dos Santos
-/. 4i c.548-77C>G r.(?) p.(=) Unknown - benign g.77769363G>C g.77303020G>C - - POMT2_000030 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.551C>T r.(?) p.(Thr184Met) Parent #2 - pathogenic g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Clement-Pat5 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.551C>T r.(?) p.(Thr184Met) Parent #1 - pathogenic g.77769283G>A g.77302940G>A - - POMT2_000038 not in 400 control chromosomes PubMed: Biancheri 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Biancheri 2007 - F no (Italy) - >5y 0 - - 1 Rosário dos Santos
?/. 5 c.551C>T r.(?) p.(Thr184Met) Parent #2 - VUS g.77769283G>A g.77302940G>A - - POMT2_000038 not in 400 control chromosomes PubMed: Biancheri 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Biancheri 2007 - F no (Italy) - >5y 0 - - 1 Rosário dos Santos
?/. 5 c.551C>T r.(?) p.(Thr184Met) Parent #1 - VUS g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 5 c.551C>T r.(?) p.(Thr184Met) Parent #1 - pathogenic g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.551C>T r.(?) p.(Thr184Met) Parent #2 - pathogenic (recessive) g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: O'Grady 2016 - - Germline - - - 0 - DNA SEQ - - MDC Pat12 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 1 Johan den Dunnen
+/. - c.551C>T r.(?) p.(Thr184Met) Parent #1 - pathogenic g.77769283G>A g.77302940G>A - - POMT2_000038 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606971 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.551C>T r.(?) p.(Thr184Met) Parent #2 - likely pathogenic (recessive) g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Johnson 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat23 PubMed: Johnson 2018 - M - - white - 0 - - 1 Johan den Dunnen
+?/. - c.551C>T r.(?) p.(Thr184Met) Unknown - likely pathogenic g.77769283G>A g.77302940G>A - - POMT2_000038 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+/. - c.551C>T r.(?) p.(Thr184Met) Parent #1 - pathogenic (recessive) g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat122 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.551C>T r.(?) p.(Thr184Met) Parent #2 - pathogenic (recessive) g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat110 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.551C>T r.(?) p.(Thr184Met) Parent #2 - likely pathogenic (recessive) g.77769283G>A g.77302940G>A - - POMT2_000038 - PubMed: Chen 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat1 PubMed: Chen 2021 patient M no China - - 0 - - 1 Johan den Dunnen
+/. - c.557G>A r.(?) p.(Cys186Tyr) Parent #1 - likely pathogenic (recessive) g.77769277C>T g.77302934C>T - - POMT2_000195 - PubMed: Ostergaard 2018, PubMed: Topf 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - LGMD Pat11 PubMed: Ostergaard 2018 - F - United Kingdom (Great Britain) white - 0 - - 1 Johan den Dunnen
?/. 5 c.559C>T r.(?) p.(Leu187Phe) Parent #1 - VUS g.77769275G>A g.77302932G>A - - POMT2_000158 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5 c.586G>T r.(?) p.(Asp196Tyr) Parent #1 - VUS g.77769248C>A g.77302905C>A - - POMT2_000068 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - - - United States - - 0 - - 1 Tom Winder
+/. 5 c.593T>A r.(?) p.(Ile198Asn) Parent #2 - pathogenic g.77769241A>T g.77302898A>T - - POMT2_000039 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Clement-Pat19 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.593T>A r.(?) p.(Ile198Asn) Parent #2 - pathogenic g.77769241A>T g.77302898A>T - - POMT2_000039 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Clement-Pat17 - - - - - - 0 - - 1 Johan den Dunnen
?/. 5 c.603C>G r.(?) p.(Phe201Leu) Parent #1 - VUS g.77769231G>C g.77302888G>C C804G (F201L) - POMT2_000105 unknown variant 2nd chromosome (unstable mRNA) PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 18513969-Pat14, 19299310-Pat20 PubMed: Messina 2008, PubMed: Mercuri 2009 - F - Italy - - 0 - - 1 Johan den Dunnen
?/. 5 c.603C>G r.(?) p.(Phe201Leu) Parent #1 - VUS g.77769231G>C g.77302888G>C - - POMT2_000105 unknown variant 2nd chromosome PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat18 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 5 c.604T>G r.(?) p.(Phe202Val) Parent #1 - pathogenic g.77769230A>C g.77302887A>C - - POMT2_000059 - PubMed: Murakami 2008 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Murakami 2008 - M - Japan - >4y 0 - - 1 Rosário dos Santos
+/. 5 c.604T>G r.(?) p.(Phe202Val) Parent #2 - pathogenic g.77769230A>C g.77302887A>C - - POMT2_000059 - PubMed: Murakami 2008 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Murakami 2008 - M - Japan - >4y 0 - - 1 Rosário dos Santos
+/. - c.604T>G r.(?) p.(Phe202Val) Parent #1 - pathogenic (recessive) g.77769230A>C g.77302887A>C - - POMT2_000059 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat116 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.604T>G r.(?) p.(Phe202Val) Parent #2 - pathogenic (recessive) g.77769230A>C g.77302887A>C - - POMT2_000059 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat111 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.604T>G r.(?) p.(Phe202Val) Parent #2 - likely pathogenic (recessive) g.77769230A>C g.77302887A>C - - POMT2_000059 - PubMed: Chen 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MD Pat2 PubMed: Chen 2021 patient M no China - - 0 - - 1 Johan den Dunnen
?/. 5 c.613G>A r.(?) p.(Ala205Thr) Parent #1 - VUS g.77769221C>T g.77302878C>T - - POMT2_000157 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5 c.621G>A r.(?) p.(Met207Ile) Parent #1 - VUS g.77769213C>T g.77302870C>T - - POMT2_000156 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.629T>C r.(?) p.(Met210Thr) Parent #1 - VUS g.77769205A>G g.77302862A>G - - POMT2_000179 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MDC Pat62 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.639C>A r.(?) p.(Tyr213*) Parent #1 - pathogenic g.77769195G>T g.77302852G>T - - POMT2_000155 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.640A>C r.(?) p.(Asn214His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>T r.(?) p.(Cys216=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>T r.(?) p.(Cys216=) Unknown - likely benign g.77769186G>A - POMT2(NM_013382.5):c.648C>T (p.C216=) - POMT2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.649G>A r.(?) p.(Ala217Thr) Parent #1 - VUS g.77769185C>T g.77302842C>T - - POMT2_000154 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5 c.649G>A r.(?) p.(Ala217Thr) Parent #1 - VUS g.77769185C>T g.77302842C>T - - POMT2_000154 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.649G>A r.(?) p.(Ala217Thr) Unknown - VUS g.77769185C>T - POMT2(NM_013382.5):c.649G>A (p.A217T) - POMT2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.652G>A r.(?) p.(Asp218Asn) Unknown - likely benign g.77769182C>T g.77302839C>T POMT2(NM_013382.5):c.652G>A (p.(Asp218Asn)) - POMT2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.652G>A r.(?) p.(Asp218Asn) Unknown - VUS g.77769182C>T g.77302839C>T - - POMT2_000073 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.656+3C>G r.spl? p.? Unknown - benign g.77769175G>C g.77302832G>C POMT2(NM_013382.5):c.656+3C>G - POMT2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.657-18C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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