Full data view for gene AGL

Information The variants shown are described using the NM_000642.2 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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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.-10A>G r.(?) p.(=) Unknown - benign g.100316589A>G g.99851033A>G AGL(NM_000028.2):c.-10A>G - AGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 2 c.-10A>G r.(?) p.(=) Parent #1 - benign g.100316589A>G g.99851033A>G -10G/A (ex3) - AGL_000002 - PubMed: Shen 1997 - - Unknown - - - 0 - DNA SEQ, SSCA - - GSD-3 - - - - - United States Caucasian - 0 - - 1 -
+/. - c.16C>T r.(?) p.(Gln6Ter) Unknown - pathogenic g.100316614C>T g.99851058C>T AGL(NM_000028.2):c.16C>T (p.Q6*) - AGL_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82+1565T>G r.(=) p.(=) Unknown - likely benign g.100318245T>G g.99852689T>G AGL(NM_000646.2):c.20T>G (p.(Ile7Ser), p.I7S) - AGL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.82+1565T>G r.(=) p.(=) Unknown - likely benign g.100318245T>G - AGL(NM_000646.2):c.20T>G (p.(Ile7Ser), p.I7S) - AGL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.83-33C>T r.(=) p.(=) Unknown - benign g.100327026C>T g.99861470C>T AGL(NM_000028.2):c.83-33C>T - AGL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.94C>T r.(?) p.(Gln32*) Parent #1 - pathogenic g.100327070C>T g.99861514C>T - - AGL_000007 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - - - - United States - - 0 - - 1 -
?/. 3 c.112A>G r.(?) p.(Thr38Ala) Unknown - VUS g.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - DNA SEQ-NG, SEQ blood - ACRDYS-1 - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 3 c.112A>G r.(?) p.(Thr38Ala) Unknown - VUS g.100327088A>G g.99861532A>G - - AGL_000016 - - - - Germline - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.207T>C r.(=) p.(=) Parent #1 - likely benign g.100327183T>C g.99861627T>C - - AGL_000067 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2230305 Germline - 27/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 27 Mohammed Faruq
+/? 3 c.256C>T r.(?) p.(Gln862*) Parent #1 - pathogenic g.100327232C>T g.99861676C>T - - AGL_000008 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - - - - United States - - 0 - - 1 -
+/. - c.256C>T r.(?) p.(Gln86*) Parent #1 - pathogenic (recessive) g.100327232C>T g.99861676C>T - - AGL_000008 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P11 PubMed: Wang 2013 - M - United States - - 0 - - 1 -
+?/. - c.294-2A>T r.spl? p.? Unknown - likely pathogenic g.100327811A>T g.99862255A>T - - AGL_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.344T>C r.(?) p.(Val115Ala) Unknown - VUS g.100327863T>C - AGL(NM_000028.2):c.344T>C (p.V115A) - AGL_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.378T>A r.(?) p.(Cys126*) Both (homozygous) - pathogenic g.100327897T>A g.99862341T>A - - AGL_000018 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ - - GSD-3 - - - M ? Iran - - 0 - - 1 François Petit
?/. - c.405G>C r.(?) p.(Lys135Asn) Unknown - VUS g.100327924G>C g.99862368G>C - - AGL_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.443G>A r.(?) p.(Arg148Lys) Unknown - likely benign g.100327962G>A g.99862406G>A AGL(NM_000028.2):c.443G>A (p.(Arg148Lys)) - AGL_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658C>T r.(?) p.(His220Tyr) Parent #1 - pathogenic (recessive) g.100330139C>T g.99864583C>T - - AGL_000078 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P17 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - 1 -
-?/. - c.846+14G>A r.(=) p.(=) Unknown - likely benign g.100336151G>A g.99870595G>A AGL(NM_000028.2):c.846+14G>A - AGL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.894C>T r.(?) p.(Leu298=) Unknown - benign g.100336361C>T g.99870805C>T AGL(NM_000028.2):c.894C>T (p.L298=) - AGL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.958+1G>A r.spl p.? Paternal (inferred) - pathogenic (recessive) g.100336426G>A g.99870870G>A - - AGL_000056 in trans with c.1019delA - ClinVar-RCV000664741.1 rs1553184657 Germline - - - 0 - DNA SEQ-NG-IT - - GSD-3 - - - M - Spain - - 0 - - 1 Jorge Docampo Cordeiro
-/. - c.959-18G>A r.(=) p.(=) Unknown - benign g.100340225G>A g.99874669G>A AGL(NM_000028.2):c.959-18G>A - AGL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1020del r.(?) p.(Glu340Aspfs*9) Maternal (inferred) - pathogenic (recessive) g.100340304del g.99874748del 1020delA - AGL_000057 in trans with c.958+1G>A - - - Germline - - - 0 - DNA SEQ-NG-IT - - GSD-3 - - - M - Spain - - 0 - - 1 Jorge Docampo Cordeiro
?/. - c.1028G>A r.(?) p.(Arg343Gln) Unknown - VUS g.100340312G>A g.99874756G>A - - AGL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1042G>A r.(?) p.(Val348Ile) Unknown - likely benign g.100340326G>A g.99874770G>A AGL(NM_000028.2):c.1042G>A (p.V348I) - AGL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1076C>T r.(?) p.(Pro359Leu) Unknown - VUS g.100340360C>T g.99874804C>T - - AGL_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1155G>T r.(?) p.(Lys385Asn) Unknown - benign g.100340782G>T g.99875226G>T AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1155G>T r.(?) p.(Lys385Asn) Unknown - likely benign g.100340782G>T g.99875226G>T AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1155G>T r.(?) p.(Lys385Asn) Parent #1 - likely benign g.100340782G>T g.99875226G>T - - AGL_000030 24 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28730701 Germline - 24/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 24 Mohammed Faruq
-?/. - c.1155G>T r.(?) p.(Lys385Asn) Both (homozygous) - likely benign g.100340782G>T g.99875226G>T - - AGL_000030 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28730701 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.1155G>T r.(?) p.(Lys385Asn) Unknown - likely benign g.100340782G>T - AGL(NM_000028.2):c.1155G>T (p.(Lys385Asn), p.K385N) - AGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160G>A r.(?) p.(Arg387Gln) Unknown - likely benign g.100340787G>A g.99875231G>A AGL(NM_000028.2):c.1160G>A (p.(Arg387Gln)) - AGL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1183C>T r.(1183c>u) p.(Gln395*) Both (homozygous) - pathogenic g.100340810C>T g.99875254C>T - - AGL_000019 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ blood - GSD-3 - - - M ? Iran - - 0 - - 1 François Petit
-/. - c.1185+15T>C r.(=) p.(=) Unknown - benign g.100340827T>C g.99875271T>C AGL(NM_000028.2):c.1185+15T>C - AGL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1186-3C>G r.spl? p.? Unknown - likely pathogenic g.100340911C>G g.99875355C>G AGL(NM_000028.2):c.1186-3C>G - AGL_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432G>A r.(?) p.(Val478Ile) Unknown - VUS g.100343205G>A g.99877649G>A AGL(NM_000028.2):c.1432G>A (p.V478I) - AGL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1481G>A r.(?) p.(Arg494His) Parent #1 - likely benign g.100343254G>A g.99877698G>A - - AGL_000032 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141043166 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.1505_1514del r.(?) p.(Cys502SerfsTer5) Unknown - likely pathogenic g.100343278_100343287del g.99877722_99877731del - - AGL_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1632dup r.(?) p.(Asn545Glufs*11) Both (homozygous) - pathogenic (recessive) g.100345499dup g.99879943dup 1632dupG - AGL_000069 - - - - Germline yes - - 0 - DNA SEQ Blood - GSD-3 G3 - - F yes India - 02y 0 - - 2 Shama Perveen
+/. - c.1735+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.100345603G>T g.99880047G>T - - AGL_000079 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P18 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - 1 -
+/. - c.1735+1G>T r.spl p.? Parent #2 - pathogenic (recessive) g.100345603G>T g.99880047G>T - - AGL_000079 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P17 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - 0 - - 1 -
?/. - c.1759C>T r.(?) p.(His587Tyr) Parent #1 - VUS g.100346211C>T g.99880655C>T - - AGL_000070 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139488862 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.1875G>T r.(?) p.(Thr625=) Unknown - likely benign g.100346327G>T g.99880771G>T AGL(NM_000028.2):c.1875G>T (p.T625=) - AGL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1877A>G r.(?) p.(His626Arg) Unknown - likely pathogenic g.100346329A>G g.99880773A>G AGL(NM_000642.2):c.1877A>G (p.H626R) - AGL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 15 c.1939_1941del r.(?) p.(Val647del) Parent #1 - pathogenic g.100346671_100346673del g.99881115_99881117del 1937delTTG - AGL_000011 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - - - - United States - - 0 - - 1 -
-/. - c.2001+8T>C r.(=) p.(=) Unknown - benign g.100346741T>C g.99881185T>C AGL(NM_000028.2):c.2001+8T>C - AGL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 15i c.2001+8T>C r.(=) p.(=) Parent #1 - benign g.100346741T>C g.99881185T>C IVS16+8C/T - AGL_000003 - PubMed: Shen 1997 - - Unknown - - - 0 - DNA SEQ, SSCA - - GSD-3 - - - - - United States Caucasian - 0 - - 1 -
+/. 15i c.2002-2A>G r.spl p.? Both (homozygous) - pathogenic g.100346846A>G g.99881290A>G - - AGL_000020 - - - - Germline/De novo (untested) yes - - 0 - DNA SEQ - - GSD-3 - - - F ? Iran - - 0 - - 1 François Petit
+/. - c.2107_2108insA r.(?) p.(Cys703Ter) Unknown - pathogenic g.100346953_100346954insA g.99881397_99881398insA AGL(NM_000028.2):c.2107_2108insA (p.C703*) - AGL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2155C>T r.(?) p.(Gln719*) Unknown - likely pathogenic g.100347001C>T g.99881445C>T - - AGL_000076 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 2 Johan den Dunnen
?/. - c.2161T>C r.(?) p.(Tyr721His) Unknown - VUS g.100347100T>C g.99881544T>C AGL(NM_000028.2):c.2161T>C (p.Y721H) - AGL_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2222A>G r.(?) p.(Gln741Arg) Unknown - VUS g.100347161A>G - AGL(NM_000028.2):c.2222A>G (p.Q741R) - AGL_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2308G>C r.(?) p.(Gly770Arg) Unknown - VUS g.100347247G>C g.99881691G>C - - AGL_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2390A>G r.(?) p.(Asn797Ser) Parent #1 - VUS g.100349757A>G g.99884201A>G - - AGL_000037 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149210307 Germline - 2/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.2682T>A r.(?) p.(Ser894=) Unknown - likely benign g.100353534T>A g.99887978T>A - - AGL_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2723T>G r.(?) p.(Leu908Arg) Parent #2 - pathogenic (recessive) g.100353575T>G g.99888019T>G - - AGL_000080 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P11 PubMed: Wang 2013 - M - United States - - 0 - - 1 -
-?/. - c.2737T>A r.(?) p.(Ser913Thr) Unknown - likely benign g.100353589T>A g.99888033T>A AGL(NM_000028.2):c.2737T>A (p.(Ser913Thr)) - AGL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2812+11G>A r.(=) p.(=) Unknown - benign g.100353675G>A g.99888119G>A AGL(NM_000028.2):c.2812+11G>A - AGL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2883A>G r.(?) p.(Arg961=) Unknown - benign g.100356846A>G g.99891290A>G AGL(NM_000028.2):c.2883A>G (p.R961=) - AGL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 23 c.3014del r.(?) p.(Cys1005PhefsTer7) Parent #1 - pathogenic g.100357226del g.99891670del - - AGL_000006 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - - - - United States - - 0 - - 1 -
+/? 25 c.3014del r.(?) p.(Cys1005PhefsTer7) Unknown - pathogenic g.100357226del g.99891670del - - AGL_000006 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD-3 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
?/. 25 c.3290G>A r.(?) p.(Arg1097His) Unknown - VUS g.100361872G>A g.99896316G>A - - AGL_000017 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs185947256 Germline ? - - 0 - DNA SEQ-NG-I - - SIDS - PubMed: Neubauer 2017 Journal: Neubauer 2017 - F ? Switzerland European 00y04m 0 - - 1 Cordula Haas
+?/. 25 c.3295T>C r.(3295u>c) p.(Trp1099Arg) Both (homozygous) - likely pathogenic g.100361877T>C g.99896321T>C - - AGL_000021 - - - - Germline/De novo (untested) yes - - 0 - DNA SEQ blood - GSD-3 - - - M ? Iran - - 0 - - 1 François Petit
+/? 25 c.3343G>A r.(?) p.(Gly1115Arg) Parent #1 - pathogenic g.100361925G>A g.99896369G>A - - AGL_000009 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - - - - United States - - 0 - - 1 -
-/. - c.3384G>A r.(?) p.(Ala1128=) Unknown - benign g.100366213G>A g.99900657G>A AGL(NM_000028.2):c.3384G>A (p.A1128=) - AGL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3423_3424del r.(?) p.(Glu1142Argfs*24) Paternal (confirmed) - pathogenic g.100366252_100366253del g.99900696_99900697del 3423_3424delTG - AGL_000043 - - - - Uniparental disomy, paternal allele - - - 0 - DNA SEQ-NG blood - GSD-3 - - - F no China - - 0 - - 1 Wenjuan Qiu
+/. - c.3526A>T r.(?) p.(Lys1176*) Both (homozygous) - pathogenic (recessive) g.100366355A>T g.99900799A>T - - AGL_000068 - - - - Germline yes - - 0 - DNA SEQ - - GSD-3 G1 - - M no (Nepal) - - 0 - - 1 Shama Perveen
?/. - c.3584C>G r.(?) p.(Thr1195Arg) Unknown - VUS g.100366413C>G g.99900857C>G - - AGL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 27 c.3665del r.(?) p.(Ala1222ValfsTer5) Parent #1 - pathogenic g.100368315del g.99902759del - - AGL_000010 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - - - - United States - - 0 - - 1 -
-?/. - c.3668G>A r.(?) p.(Gly1223Asp) Parent #1 - likely benign g.100368318G>A g.99902762G>A - - AGL_000071 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs202046937 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.3738A>T r.(?) p.(Gly1246=) Unknown - likely benign g.100376305A>T g.99910749A>T AGL(NM_000028.2):c.3738A>T (p.G1246=) - AGL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3764A>G r.(?) p.(Asn1255Ser) Unknown - VUS g.100376331A>G g.99910775A>G AGL(NM_000028.2):c.3764A>G (p.N1255S) - AGL_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 28 c.3777G>A r.(3777g>a) p.(Trp1259*) Both (homozygous) - pathogenic g.100376344G>A g.99910788G>A - - AGL_000022 - - - - Germline/De novo (untested) yes - - 0 - DNA SEQ - - GSD-3 - - - M ? Iran - - 0 - - 1 François Petit
-?/. - c.3849T>C r.(=) p.(=) Parent #1 - likely benign g.100377973T>C g.99912417T>C - - AGL_000072 26 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28730706 Germline - 26/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 26 Mohammed Faruq
+?/. - c.3890del r.(?) p.(Leu1297Cysfs*17) Unknown - likely pathogenic g.100378014del g.99912458del - - AGL_000077 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 2 Johan den Dunnen
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) Maternal (confirmed) - pathogenic g.100378035dup g.99912479dup 3904insA - AGL_000005 - PubMed: Pavari 1998 - - Unknown - - - 0 - DNA SEQ, SSCA - - GSD-3 - - - M - - jew, Ashkenazi - 0 - - 1 -
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) Paternal (inferred) - pathogenic g.100378035dup g.99912479dup - - AGL_000005 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD-3 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) Maternal (inferred) - pathogenic g.100378035dup g.99912479dup - - AGL_000005 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD-3 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27) Paternal (confirmed) - pathogenic g.100379098del g.99913542del 3964delT - AGL_000012 - PubMed: Shaiu 2000 - - Unknown - - AvaII- 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - - F - United States African-American - 0 - - 1 -
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27) Maternal (confirmed) - pathogenic g.100379098del g.99913542del 3964delT - AGL_000012 - PubMed: Shaiu 2000 - - Unknown - - AvaII- 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - - F - United States African-American - 0 - - 1 -
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27) Paternal (inferred) - pathogenic g.100379098del g.99913542del 3964delT - AGL_000012 - PubMed: Shaiu 2000 - - Unknown - - AvaII- 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - 2nd patient, unrelated - - United States - - 0 - - 1 -
+/? 30 c.3965del r.3965del p.(Val1322AlafsTer27) Maternal (inferred) - pathogenic g.100379098del g.99913542del 3964delT - AGL_000012 - PubMed: Shaiu 2000 - - Unknown - - AvaII- 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - 2nd patient, unrelated - - United States - - 0 - - 1 -
+/? 30 c.3965del r.(?) p.(Val1322AlafsTer27) Parent #1 - pathogenic g.100379098del g.99913542del 3964delT - AGL_000012 - PubMed: Shaiu 2000 - - Unknown - - AvaII- 0 - DNA SEQ - - GSD-3 - - 3 unrelated patients - - United States - - 0 - - 3 -
+/? 31 c.4221dup r.(?) p.(Leu1408IlefsTer14) Paternal (confirmed) - pathogenic g.100381004dup g.99915448dup 4214insA - AGL_000005 - PubMed: Pavari 1998 - - Unknown - - - 0 - DNA SEQ, SSCA - - GSD-3 - - - M - - jew, Ashkenazi - 0 - - 1 -
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 Paternal (inferred) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Okubo 1998 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - - F - Japan - - 0 - - 1 -
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 Maternal (confirmed) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Okubo 1998 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - - F - Japan - - 0 - - 1 -
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) Paternal (inferred) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD-3 - - affected brother of 223003-Pat2 M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) Maternal (inferred) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD-3 - - affected brother of 223003-Pat2 M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) Paternal (inferred) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - affected brother of 223003-Pat1 M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) Maternal (inferred) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - DNA SEQ - - GSD-3 - - affected brother of 223003-Pat1 M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 Parent #1 - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - - F - United States Caucasian - 0 - - 1 -
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 Parent #2 - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Shaiu 2000 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - GSD-3 - - - F - United States Caucasian - 0 - - 1 -
+?/. - c.4260-12A>G r.(=) p.(=) Parent #1 - likely pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs369973784 Germline - 1/2788 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.4331A>G r.(?) p.(Asn1444Ser) Parent #1 - VUS g.100382037A>G g.99916481A>G - - AGL_000073 conflicting interpretations of pathogenicity; 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143815159 Germline - 21/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 21 Mohammed Faruq
+/? 34 c.4529dup r.(?) p.(Tyr1510*) Maternal (confirmed) - pathogenic g.100387137dup g.99921581dup 4529insA (ex35) - AGL_000001 - PubMed: Shen 1997 - - Unknown - - RsaI- 0 - DNA SEQ, SSCA - - GSD-3 - - - - - United States Caucasian - 0 - - 1 -
+/? 34 c.4529dup r.(?) p.(Tyr1510*) Paternal (inferred) - pathogenic g.100387137dup g.99921581dup 4529insA (ex35) - AGL_000001 - PubMed: Shen 1997 - - Unknown - - RsaI- 0 - DNA SEQ, SSCA - - GSD-3 - - - - - United States Caucasian - 0 - - 1 -
+/? 34 c.4529dup r.(?) p.(Tyr1510*) Unknown - pathogenic g.100387137dup g.99921581dup - - AGL_000001 - - - - Unknown - - - 0 - DNA SEQ-NG-I, SEQ - - GSD-3 - - - M - United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+/. - c.4529dup r.(?) p.(Tyr1510Ter) Unknown - pathogenic g.100387137dup g.99921581dup AGL(NM_000028.2):c.4529dupA (p.Y1510*) - AGL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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