Full data view for gene TCAP

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_003673.3 transcript reference sequence.

276 entries on 3 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.-4359G>A r.(?) p.(=) Unknown - likely benign g.37817254G>A - STARD3(NM_001165937.1):c.1055G>A (p.(Arg352His)) - STARD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1437C>T r.(?) p.(=) Unknown - likely benign g.37820176C>T g.39663923C>T - - STARD3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-632A>G r.(?) p.(=) Unknown - likely benign g.37820981A>G g.39664728A>G - - STARD3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-443C>T r.(?) p.(=) Unknown - VUS g.37821170C>T g.39664917C>T - - STARD3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-178G>T r.(?) p.(=) Parent #1 - benign g.37821435G>T g.39665182G>T - - TCAP_000013 - - - rs931992 Germline - 0.10-0.71 - - - - - - - - - - - - - - - - - - - - -
-/. - c.-178G>T r.(=) p.(=) Unknown - benign g.37821435G>T g.39665182G>T - - TCAP_000013 found in cases and controls PubMed: Francis 2014 - - Germline - - - - - DNA SEQ - - LGMD2 cases/controls PubMed: Francis 2014 - F;M - India - - - - - 1 Johan den Dunnen
-?/. - c.-13A>G r.(?) p.(=) Unknown - likely benign g.37821600A>G g.39665347A>G TCAP(NM_003673.4):c.-13A>G - TCAP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.37821613A>G - TCAP(NM_003673.3):c.1A>G (p.M1?) - PNMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.4G>A r.(?) p.(Ala2Thr) Unknown - VUS g.37821616G>A g.39665363G>A NM_003673:c.G4A - TCAP_000035 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.14_15del r.(?) p.(Glu5AlafsTer11) Both (homozygous) ACMG likely pathogenic (recessive) g.37821626_37821627del g.39665373_39665374del c.14_15delAG - TCAP_000086 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat121 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 1 c.26_33dup r.(?) p.(Glu12Argfs*20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup 26_33dupAGGTGTCG - TCAP_000033 - PubMed: Francis 2014 - - Germline yes 1/10 cases - - - DNA SEQ - - LGMDR7;LGMD2G FamF97-1 PubMed: Francis 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India Dravidian - - - - 1 Francis Amirtharaj
+/. - c.26_33dup r.(?) p.(Glu12Argfs*20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup 26_33dupAGGTGTCG - TCAP_000033 - Waddell 2012, WMS-G.P.41 - - Germline yes - - - - DNA SEQ - - LGMD - Waddell 2012, WMS-G.P.41 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Australia China;Cambodia - - - - 2 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12Argfs*20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - Yee 2007, WMS-G.P.8.15 - - Germline - - - - - DNA SEQ - - LGMD - Yee 2007, WMS-G.P.8.15 - - - China - - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12Argfs*20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - Yee 2007, WMS-G.P.8.15 - - Germline - - - - - DNA SEQ - - LGMD - Yee 2007, WMS-G.P.8.15 family, 2 affected - - China - - - - - 2 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12Argfs*20) Parent #1 - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - Yee 2007, WMS-G.P.8.15 - - Germline - 1/100 controls - - - DNA SEQ - - Healthy/Control - Yee 2007, WMS-G.P.8.15 - - - China - - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat27 PubMed: Liang 2020 - F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat28 PubMed: Liang 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat29 PubMed: Liang 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic g.37821638_37821645dup g.39665385_39665392dup - - TCAP_000033 - PubMed: Liang 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 247-gene panel LGMD Pat30 PubMed: Liang 2020 - F - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Parent #1 - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup 23_24insCGAGGTGT - TCAP_000033 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Pat1 PubMed: Chen 2023 2-generation family, 1 affected, unaffected parents/relatives M no China Asia-SE - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup 26_33AGGTGTCG - TCAP_000033 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Pat2 PubMed: Chen 2023 - M - Singapore Asia-SE - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup 26_33AGGTGTCG - TCAP_000033 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Pat3 PubMed: Chen 2023 - F - Singapore Asia-SE - - - - 1 Johan den Dunnen
+/. - c.26_33dup r.(?) p.(Glu12ArgfsTer20) Both (homozygous) - pathogenic (recessive) g.37821638_37821645dup g.39665385_39665392dup 26_33AGGTGTCG - TCAP_000033 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Pat4 PubMed: Chen 2023 - M - China Asia-SE - - - - 1 Johan den Dunnen
+?/. 1 c.32C>A r.(?) p.(Ser11*) Both (homozygous) - likely pathogenic (recessive) g.37821644C>A g.39665391C>A - - TCAP_000032 not in 334 control chromosomes PubMed: Francis 2014 - - Germline yes - - - - DNA SEQ - - LGMDR7;LGMD2G Fa,F50-1 PubMed: Francis 2014 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M yes India Dravidian - - - - 3 Francis Amirtharaj
-/. - c.32C>T r.(?) p.(Ser11Leu) Unknown - benign g.37821644C>T g.39665391C>T TCAP(NM_003673.3):c.32C>T (p.S11L), TCAP(NM_003673.4):c.32C>T (p.S11L) - TCAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32C>T r.(?) p.(Ser11Leu) Unknown - likely benign g.37821644C>T g.39665391C>T TCAP(NM_003673.3):c.32C>T (p.S11L), TCAP(NM_003673.4):c.32C>T (p.S11L) - TCAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32C>T r.(?) p.(Ser11Leu) Unknown - likely benign g.37821644C>T g.39665391C>T TCAP(NM_003673.3):c.32C>T (p.S11L), TCAP(NM_003673.4):c.32C>T (p.S11L) - TCAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32C>T r.(?) p.(Ser11Leu) Unknown - likely benign g.37821644C>T - TCAP(NM_003673.3):c.32C>T (p.S11L), TCAP(NM_003673.4):c.32C>T (p.S11L) - TCAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.37_39del r.(?) p.(Glu13del) Unknown - VUS g.37821649_37821651del g.39665396_39665398del NM_003673:c.37_39del - TCAP_000010 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.37_39del r.(?) p.(Glu13del) Unknown - likely benign g.37821649_37821651del g.39665396_39665398del TCAP(NM_003673.3):c.37_39del (p.(Glu13del)), TCAP(NM_003673.3):c.37_39delGAG (p.E13del), TCAP(NM_003673.4):c.37_39delGAG (p.E13del) - TCAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37_39del r.(?) p.(Glu13del) Unknown - likely benign g.37821649_37821651del g.39665396_39665398del TCAP(NM_003673.3):c.37_39del (p.(Glu13del)), TCAP(NM_003673.3):c.37_39delGAG (p.E13del), TCAP(NM_003673.4):c.37_39delGAG (p.E13del) - TCAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - VUS g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 not in 400 control chromosomes PubMed: Bos 2006 - - Germline - - - - - DNA DHPLC, SEQ - - ? - PubMed: Bos 2006 - M - United States white >53y - - - 1 Johan den Dunnen
?/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - VUS g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 0/144 DCM patients PubMed: Marziliano 2006 - - Germline - 2/324 - - - DNA DHPLC, SEQ - - CMH - PubMed: Marziliano 2006 - - - Italy white - - - - 2 Johan den Dunnen
-/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - benign g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 - PubMed: Perrot 2006 - - Germline - 3/350 - - - DNA SSCA, SEQ - - CMH - PubMed: Perrot 2006 - - - - white - - - - 3 Johan den Dunnen
?/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - VUS g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 - PubMed: Marziliano 2006 - - Germline - 4/1000 - - - DNA DHPLC, SEQ - - ? - PubMed: Marziliano 2006 - - - Italy white - - - - 4 Johan den Dunnen
-/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - benign g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 - PubMed: Perrot 2006 - - Germline - 1/400 - - - DNA SSCA, SEQ - - CMD - PubMed: Perrot 2006 - - - - white - - - - 1 Johan den Dunnen
-/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - benign g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 - PubMed: Perrot 2006 - - Germline - 4/800 - - - DNA SSCA, SEQ - - Healthy/Control - PubMed: Perrot 2006 - - - - white - - - - 4 Johan den Dunnen
+/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - pathogenic (recessive) g.37821649_37821651del g.39665396_39665398del g.36_38del - TCAP_000010 segregates PubMed: Andersen 2009 - - Germline - - - - - DNA SEQ - - CMH 19035361-PatZS PubMed: Andersen 2009 3-generation family, 2 affecteds - - Denmark - - - - - 3 Johan den Dunnen
?/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - VUS g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 - PubMed: Andersen 2009 - - Germline - 1/200 - - - DNA SEQ - - Healthy/Control 19035361-c PubMed: Andersen 2009 - - - Denmark - - - - - 1 Johan den Dunnen
?/. 1 c.37_39del r.(?) p.(Glu13del) Parent #1 - VUS g.37821649_37821651del g.39665396_39665398del 37_39delGAG - TCAP_000010 no second variant in TCAP, hypertrophic cardiomyopathy-associated variants PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.37_39del r.(?) p.(Glu13del) Unknown - likely pathogenic g.37821649_37821651del g.39665396_39665398del - - TCAP_000010 - PubMed: Hirtle-Lewis 2013 - - Germline - - - - - DNA SEQ - - CMD - PubMed: Hirtle-Lewis 2013 - - - Canada - - - - - 1 Johan den Dunnen
?/. - c.37_39del r.(?) p.(Glu13del) Unknown - VUS g.37821649_37821651del g.39665396_39665398del TCAP(NM_003673.3):c.37_39del (p.(Glu13del)), TCAP(NM_003673.3):c.37_39delGAG (p.E13del), TCAP(NM_003673.4):c.37_39delGAG (p.E13del) - TCAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37_39del r.(?) p.(Glu13del) Unknown - likely benign g.37821649_37821651del g.39665396_39665398del TCAP(NM_003673.3):c.37_39del (p.(Glu13del)), TCAP(NM_003673.3):c.37_39delGAG (p.E13del), TCAP(NM_003673.4):c.37_39delGAG (p.E13del) - TCAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37_39del r.(?) p.(Glu13del) Unknown - likely benign g.37821649_37821651del g.39665396_39665398del TCAP(NM_003673.3):c.37_39del (p.(Glu13del)), TCAP(NM_003673.3):c.37_39delGAG (p.E13del), TCAP(NM_003673.4):c.37_39delGAG (p.E13del) - TCAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37_39del r.(?) p.(Glu13del) Unknown - likely benign g.37821649_37821651del g.39665396_39665398del TCAP(NM_003673.3):c.37_39del (p.(Glu13del)), TCAP(NM_003673.3):c.37_39delGAG (p.E13del), TCAP(NM_003673.4):c.37_39delGAG (p.E13del) - TCAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37_39del r.(?) p.(Glu13del) Unknown - VUS g.37821649_37821651del g.39665396_39665398del 37_39delGAG - TCAP_000010 - PubMed: Walsh 2017 - - Germline - 2/590 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 2 Johan den Dunnen
-?/. - c.39G>A r.(?) p.(Glu13=) Unknown - likely benign g.37821651G>A g.39665398G>A TCAP(NM_003673.4):c.39G>A (p.E13=) - TCAP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.43_49dup r.(?) p.(Arg17Leufs*2) Parent #1 - pathogenic g.37821655_37821661dup g.39665402_39665408dup 43_49dupTGTGAGC - TCAP_000064 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.45_46del r.(?) p.(Cys15*) Parent #1 - pathogenic (recessive) g.37821657_37821658del g.39665404_39665405del 45_46delTG - TCAP_000081 - Yee 2007, WMS-G.P.8.15 - - Germline - 1/100 controls - - - DNA SEQ - - Healthy/Control - Yee 2007, WMS-G.P.8.15 - - - China - - - - - 1 Johan den Dunnen
?/. - c.52C>T r.(?) p.(Arg18Trp) Unknown - VUS g.37821664C>T g.39665411C>T TCAP(NM_003673.3):c.52C>T (p.R18W) - TCAP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.52C>T r.(?) p.(Arg18Trp) Parent #1 - VUS g.37821664C>T g.39665411C>T - - TCAP_000041 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
+?/. 1 c.53G>A r.(?) p.(Arg18Gln) Parent #1 - likely pathogenic g.37821665G>A g.39665412G>A 1630G>A (Arg18Gln) - TCAP_000028 - PubMed: Hershberger 2009 - - Germline - - - - - DNA SEQ - - CMD 19412328-D1 PubMed: Hershberger 2009 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.59C>T r.(?) p.(Ala20Val) Unknown - VUS g.37821671C>T g.39665418C>T TCAP(NM_003673.4):c.59C>T (p.A20V) - TCAP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Ala20=) Unknown - likely benign g.37821672C>G g.39665419C>G TCAP(NM_003673.3):c.60C>G (p.A20=, p.(Ala20=)), TCAP(NM_003673.4):c.60C>G (p.A20=) - TCAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Ala20=) Unknown - likely benign g.37821672C>G g.39665419C>G TCAP(NM_003673.3):c.60C>G (p.A20=, p.(Ala20=)), TCAP(NM_003673.4):c.60C>G (p.A20=) - TCAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Ala20=) Unknown - likely benign g.37821672C>G - TCAP(NM_003673.3):c.60C>G (p.A20=, p.(Ala20=)), TCAP(NM_003673.4):c.60C>G (p.A20=) - TCAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60C>G r.(?) p.(Ala20=) Unknown - benign g.37821672C>G - TCAP(NM_003673.3):c.60C>G (p.A20=, p.(Ala20=)), TCAP(NM_003673.4):c.60C>G (p.A20=) - TCAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Ala20=) Unknown - likely benign g.37821672C>G - TCAP(NM_003673.3):c.60C>G (p.A20=, p.(Ala20=)), TCAP(NM_003673.4):c.60C>G (p.A20=) - TCAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>G r.(?) p.(Ala20=) Unknown - likely benign g.37821672C>G - TCAP(NM_003673.3):c.60C>G (p.A20=, p.(Ala20=)), TCAP(NM_003673.4):c.60C>G (p.A20=) - TCAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.66G>A r.(?) p.(Trp22*) Both (homozygous) - pathogenic g.37821678G>A g.39665425G>A - - TCAP_000065 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.75G>A r.(?) p.(Trp25*) Paternal (confirmed) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 not in 308 control chromosomes; FKRP normal PubMed: Olive 2008 - - Germline - - - - - DNA SEQ - - LGMD 18948002-P1 PubMed: Olive 2008 carrier parents and brother F - Morocco - >27y - - - 3 Johan den Dunnen
+/. 1 c.75G>A r.(?) p.(Trp25*) Maternal (confirmed) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 not in 308 control chromosomes; FKRP normal PubMed: Olive 2008 - - Germline - - - - - DNA SEQ - - LGMD 18948002-P1 PubMed: Olive 2008 carrier parents and brother F - Morocco - >27y - - - 3 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline yes - - - - DNA SEQ - - LGMD2 FamG2 PubMed: Chamova 2018 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M - Bulgaria muslim - - - - 2 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG3Pat3/4/5/6 PubMed: Chamova 2018 3-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives M - Bulgaria muslim - - - - 4 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG8Pat7/8 PubMed: Chamova 2018 2-generation family, 2 affected (F,M), unaffected heterozygous carrier parents/relatives F;M - Bulgaria muslim - - - - 2 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG9Pat9/10 PubMed: Chamova 2018 3-generation family, 2 affected (F,M), unaffected heterozygous carrier parents/relatives F;M - Bulgaria muslim - - - - 2 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG1Pat11 PubMed: Chamova 2018 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG4Pat12 PubMed: Chamova 2018 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG5Pat13 PubMed: Chamova 2018 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG6Pat14 PubMed: Chamova 2018 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG7Pat15 PubMed: Chamova 2018 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG10Pat16 PubMed: Chamova 2018 - M - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG11Pat17 PubMed: Chamova 2018 - F - Bulgaria - - - - - 1 Johan den Dunnen
+/. - c.75G>A r.(?) p.(Trp25*) Both (homozygous) - pathogenic (recessive) g.37821687G>A g.39665434G>A - - TCAP_000026 - PubMed: Chamova 2018 - - Germline - - - - - DNA SEQ - - LGMD FamG12Pat18 PubMed: Chamova 2018 - F - Bulgaria - - - - - 1 Johan den Dunnen
+?/. - c.75G>A r.(?) p.(Trp25*) Unknown - likely pathogenic g.37821687G>A g.39665434G>A - - TCAP_000026 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
-?/. - c.87A>C r.(?) p.(Thr29=) Unknown - likely benign g.37821699A>C g.39665446A>C - - STARD3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.90_91del r.(?) p.(Ser31Hisfs*11) Both (homozygous) - pathogenic (recessive) g.37821702_37821703del g.39665449_39665450del - - TCAP_000075 - PubMed: Ikenberg 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD2 FamPat1/2 PubMed: Ikenberg 2017 6-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F yes Germany Turkey - - - - 2 Johan den Dunnen
+/. - c.90_91del r.(?) p.(Ser31Hisfs*11) Both (homozygous) - pathogenic (recessive) g.37821702_37821703del g.39665449_39665450del - - TCAP_000075 - PubMed: Brusa 2018 - - Germline - - - - - DNA SEQ-NG - 89 gene panel LGMD2 patient PubMed: Brusa 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Greece - - - - - 1 Johan den Dunnen
+?/. - c.90_91del r.(?) p.(Ser31HisfsTer11) Both (homozygous) ACMG likely pathogenic (recessive) g.37821702_37821703del g.39665449_39665450del 90_91delGT - TCAP_000075 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - rs155560697 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D18 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients F - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.90_91del r.(?) p.(Ser31HisfsTer11) Both (homozygous) ACMG likely pathogenic (recessive) g.37821702_37821703del g.39665449_39665450del c.90_91delGT - TCAP_000075 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - rs1555606976 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D18 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) F - Turkey - - - - - 1 Johan den Dunnen
?/. 1 c.97C>T r.(?) p.(Arg33Trp) Unknown - VUS g.37821709C>T g.39665456C>T - - TCAP_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.97C>T r.(?) p.(Arg33Trp) Parent #1 - VUS g.37821709C>T g.39665456C>T - - TCAP_000066 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.102C>T r.(?) p.(=) Unknown - benign g.37821714C>T - TCAP(NM_003673.4):c.102C>T (p.P34=) - STARD3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.102del r.(?) p.(Glu35Argfs*33) Parent #1 - pathogenic (recessive) g.37821714del g.39665461del 100delC - TCAP_000077 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ - - LGMD patient PubMed: Wang 2014 - - no China - - - - - 1 Johan den Dunnen
+/. - c.102del r.(?) p.(Glu35Argfs*33) Parent #1 - pathogenic (recessive) g.37821714del g.39665461del 100delC - TCAP_000077 - PubMed: Lv 2021 - - Germline - - - - - DNA SEQ - - MYOP Fam3PatII1 PubMed: Lv 2021 2-generation family, 1 affected, unaffected parents M - China - - - - - 1 Johan den Dunnen
-/. - c.105G>A r.(?) p.(Glu35=) Unknown - benign g.37821717G>A g.39665464G>A TCAP(NM_003673.4):c.105G>A (p.E35=) - STARD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.110_110+1del r.spl p.? Parent #1 - pathogenic (recessive) g.37821722_37821723del g.39665469_39665470del 109_110del - TCAP_000001 - PubMed: Moreira, OMIM:var0002 - - Germline - - - - - RNA, DNA SEQ - - LGMD - PubMed: Moreira - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.110_110+1del r.spl p.(Gly37Leufs*5) Unknown - pathogenic (recessive) g.37821722_37821723del g.39665469_39665470del 109_110delGG - TCAP_000001 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - (United States) - - - - - 1 Tom Winder
+/. - c.110+5G>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.37821727G>A g.39665474G>A - - TCAP_000088 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MD Pat1 PubMed: Chen 2023 2-generation family, 1 affected, unaffected parents/relatives M no China Asia-SE - - - - 1 Johan den Dunnen
+?/. - c.110+5G>A r.spl? p.? Parent #2 - likely pathogenic (recessive) g.37821727G>A g.39665474G>A - - TCAP_000088 - PubMed: Lv 2021 - - Germline - - - - - DNA SEQ - - MYOP Fam3PatII1 PubMed: Lv 2021 2-generation family, 1 affected, unaffected parents M - China - - - - - 1 Johan den Dunnen
-?/. - c.110+10G>C r.(=) p.(=) Unknown - likely benign g.37821732G>C g.39665479G>C TCAP(NM_003673.4):c.110+10G>C - TCAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.110+15G>C r.(=) p.(=) Unknown - benign g.37821737G>C g.39665484G>C TCAP(NM_003673.4):c.110+15G>C - TCAP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.110+15G>T r.(=) p.(=) Unknown - benign g.37821737G>T g.39665484G>T TCAP(NM_003673.4):c.110+15G>T - STARD3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.110+48C>T r.(?) p.(=) Unknown - benign g.37821770C>T g.39665517C>T - - TCAP_000024 - from website {DBsub-Emory} - rs2941510 Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.110+48C>T r.(=) p.(=) Unknown - benign g.37821770C>T g.39665517C>T - - TCAP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.111-16C>G r.(=) p.(=) Unknown - likely benign g.37821953C>G g.39665700C>G TCAP(NM_003673.3):c.111-16C>G, TCAP(NM_003673.4):c.111-16C>G - TCAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.111-16C>G r.(=) p.(=) Unknown - likely benign g.37821953C>G g.39665700C>G TCAP(NM_003673.3):c.111-16C>G, TCAP(NM_003673.4):c.111-16C>G - TCAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.111-16C>G r.(=) p.(=) Unknown - benign g.37821953C>G - TCAP(NM_003673.3):c.111-16C>G, TCAP(NM_003673.4):c.111-16C>G - TCAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.113G>T r.(?) p.(Cys38Phe) Parent #1 - VUS g.37821971G>T g.39665718G>T - - TCAP_000067 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.113G>T r.(?) p.(Cys38Phe) Parent #1 - VUS g.37821971G>T g.39665718G>T - - TCAP_000067 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
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